Congenital and genetic diseases

• 11-beta-hydroxylase deficiency

• 12q14 microdeletion syndrome

• 15q11.2 microdeletion

• 15q13.3 microdeletion syndrome

• 15q24 microdeletion syndrome

• 16p11.2 deletion syndrome

• 16p13.11 microduplication syndrome

• 16q24.3 microdeletion syndrome

• 17-alpha-hydroxylase deficiency

• 17-beta hydroxysteroid dehydrogenase 3 deficiency

• 17q12 deletion syndrome

• 17q12 duplication

• 17q23.1q23.2 microdeletion syndrome

• 18 Hydroxylase deficiency

• 19p13.12 microdeletion syndrome

• 1q21.1 microdeletion syndrome

• 1q44 microdeletion syndrome

• 2-methyl-3-hydroxybutyric aciduria

• 2-methylbutyryl-CoA dehydrogenase deficiency

• 20p12.3 microdeletion syndrome

• 22q11.2 deletion syndrome

• 22q11.2 duplication syndrome

• 22q13.3 deletion syndrome

• 2p15p16.1 microdeletion syndrome

• 2q23.1 microdeletion syndrome

• 2q37 deletion syndrome

• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

• 3-beta-hydroxysteroid dehydrogenase deficiency

• 3-Hydroxyisobutyric aciduria

• 3-methylcrotonyl-CoA carboxylase deficiency

• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

• 3M syndrome

• 3MC syndrome

• 3q29 microdeletion syndrome

• 46,XX testicular disorder of sex development

• 47 XXX syndrome

• 47, XYY syndrome

• 48,XXXY syndrome

• 48,XYYY

• 49, XXXXY syndrome

• 49, XXXYY syndrome

• 49,XXXXX syndrome

• 5-alpha reductase deficiency

• 5-oxoprolinase deficiency

• 5q- syndrome

• 5q14.3 microdeletion syndrome

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• 7q11.23 duplication syndrome

• 8p23.1 duplication syndrome

• 8q12 microduplication syndrome

• Aagenaes syndrome

• Aarskog syndrome

• Abdominal aortic aneurysm

• Abetalipoproteinemia

• Ablepharon macrostomia syndrome

• Abruzzo-Erickson syndrome

• Absence of fingerprints congenital milia

• Absence of gluteal muscle

• Absence of Tibia

• Absence of tibia with polydactyly

• Absent breasts and nipples

• Absent patella

• Acalvaria

• Acanthosis nigricans - Not a rare disease

• Acanthosis nigricans muscle cramps acral enlargement

• Acardia

• Acatalasemia

• Accessory deep peroneal nerve

• Accessory navicular bone - Not a rare disease

• Accessory pancreas

• Aceruloplasminemia

• Achalasia microcephaly syndrome

• Achard syndrome

• Acheiropody

• Achondrogenesis

• Achondrogenesis type 1A - See Achondrogenesis

• Achondrogenesis type 1B - See Achondrogenesis

• Achondrogenesis type 2 - See Achondrogenesis

• Achondroplasia

• Acitretin embryopathy

• Acral dysostosis dyserythropoiesis syndrome

• Acral peeling skin syndrome

• Acro-pectoro-renal field defect

• Acrocallosal syndrome, Schinzel type

• Acrocapitofemoral dysplasia

• Acrocephalopolydactyly

• Acrodermatitis enteropathica

• Acrodysostosis

• Acrodysplasia scoliosis

• Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia

• Acrofacial dysostosis Catania type

• Acrofacial dysostosis Palagonia type

• Acrofacial dysostosis Rodriguez type

• Acrofrontofacionasal dysostosis syndrome

• Acrogeria, Gottron type

• Acrokeratoelastoidosis of Costa

• Acromegaloid facial appearance syndrome

• Acromegaloid features, overgrowth, cleft palate and hernia

• Acromegaloid hypertrichosis syndrome

• Acromelic frontonasal dysostosis

• Acromesomelic dysplasia Campailla Martinelli type

• Acromesomelic dysplasia Hunter Thompson type

• Acromesomelic dysplasia Maroteaux type

• Acromicric dysplasia

• Acroosteolysis dominant type

• Acropectoral syndrome

• Acropectorovertebral dysplasia F form

• Acrorenal mandibular syndrome

• ACTH-independent macronodular adrenal hyperplasia

• Acute intermittent porphyria

• Adactylia unilateral

• Adams-Oliver syndrome

• ADCY5-related dyskinesia

• Addison's disease

• Adenine phosphoribosyltransferase deficiency

• Adenosine Deaminase 2 deficiency

• Adenosine deaminase deficiency

• Adenosine monophosphate deaminase 1 deficiency

• Adenylosuccinase deficiency

• Adermatoglyphia

• Adrenomyeloneuropathy

• Adrenomyodystrophy

• Adult polyglucosan body disease

• ADULT syndrome

• Adult-onset nemaline myopathy

• Adult-onset vitelliform macular dystrophy

• Advanced sleep phase syndrome, familial

• Afibrinogenemia

• Agammaglobulinemia, microcephaly, and severe dermatitis

• Agammaglobulinemia, non-Bruton type

• Agenesis of the dorsal pancreas

• Agnathia-microstomia-synotia

• Aicardi syndrome

• Aicardi-Goutieres syndrome

• Akesson syndrome

• Al Gazali Aziz Salem syndrome

• Al Gazali Khidr Prem Chandran syndrome

• Al Gazali Sabrinathan Nair syndrome

• Al Gazali syndrome

• Al-Gazali-Donnai-Mueller syndrome

• Alagille syndrome

• Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus

• Albinism

• Albinism deafness syndrome

• Albinism ocular late onset sensorineural deafness

• Albright's hereditary osteodystrophy

• Alexander disease

• ALG1-CDG (CDG-Ik)

• ALG11-CDG (CDG-Ip)

• ALG12-CDG (CDG-Ig)

• ALG13-CDG

• ALG2-CDG (CDG-Ii)

• ALG3-CDG (CDG-Id)

• ALG6-CDG (CDG-Ic)

• ALG8-CDG (CDG-Ih)

• ALG9-CDG (CDG-IL)

• Alkaptonuria

• Allain-Babin-Demarquez syndrome

• Allan-Herndon-Dudley syndrome

• Alopecia epilepsy oligophrenia syndrome of Moynahan

• Alopecia intellectual disability syndrome 2

• Alopecia totalis

• Alopecia universalis

• Alopecia universalis onychodystrophy vitiligo

• Alopecia, epilepsy, pyorrhea, mental subnormality

• Alopecia-contractures-dwarfism-intellectual disability syndrome

• Alopecia-intellectual disability syndrome

• Alpers syndrome

• Alpha-1 antitrypsin deficiency

• Alpha-ketoglutarate dehydrogenase deficiency

• Alpha-mannosidosis

• Alpha-thalassemia x-linked intellectual disability syndrome

• Alport syndrome

• Alström syndrome

• Alternating hemiplegia of childhood

• Alveolar capillary dysplasia

• Amaurosis congenita cone-rod type with congenital hypertrichosis

• Ambras syndrome

• Amelogenesis imperfecta

• Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1

• Amelogenesis imperfecta local hypoplastic

• Amelogenesis imperfecta nephrocalcinosis

• Ameloonychohypohidrotic syndrome

• Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis

• Aminoacylase 1 deficiency

• Aminolevulinate dehydratase deficiency porphyria

• Amish lethal microcephaly

• Amish Nemaline Myopathy

• Amniotic band syndrome

• Amyloidosis corneal

• Amyloidosis of gingiva and conjunctiva with intellectual disability

• Amyotonia congenita

• Anal sphincter dysplasia

• Anauxetic dysplasia

• Andermann syndrome

• Andersen-Tawil syndrome

• Anemia due to Adenosine triphosphatase deficiency

• Anemia sideroblastic and spinocerebellar ataxia

• Anencephaly

• Aneurysm of sinus of Valsalva

• Angel shaped phalangoepiphyseal dysplasia

• Angelman syndrome

• Angioma hereditary neurocutaneous

• Angioma serpiginosum

• Aniridia - ptosis - intellectual disability - familial obesity

• Aniridia absent patella

• Aniridia renal agenesis psychomotor retardation

• Ankyloblepharon filiforme adnatum cleft palate

• Ankyloblepharon filiforme imperforate anus

• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

• Ankylosing vertebral hyperostosis with tylosis

• Ankylosis of teeth

• Annular pancreas

• Anodontia

• Anomalous origin of right pulmonary artery familial

• Anonychia ectrodactyly

• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly

• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

• Anophthalmia plus syndrome

• Anophthalmos with limb anomalies

• Anorchia

• Antecubital pterygium

• Anterior segment dysgenesis

• Antley Bixler syndrome

• Aortic arch anomaly - peculiar facies - intellectual disability

• Aortic coarctation

• Aortopulmonary window

• Apert syndrome

• Aphalangia partial with syndactyly and duplication of metatarsal IV

• Aplasia cutis congenita

• Aplasia cutis congenita intestinal lymphangiectasia

• Aplasia cutis congenita of limbs recessive

• Arachnodactyly - intellectual disability - dysmorphism

• Arachnoid cysts

• AREDYLD

• Arginase deficiency

• Argininosuccinic aciduria

• Arhinia choanal atresia microphthalmia

• Aromatase deficiency

• Aromatase excess syndrome

• Aromatic L-amino acid decarboxylase deficiency

• Arrhinia

• Arterial calcification of infancy

• Arterial tortuosity syndrome

• Arthrochalasia Ehlers-Danlos syndrome

• Arthrogryposis and ectodermal dysplasia

• Arthrogryposis epileptic seizures migrational brain disorder

• Arthrogryposis multiplex congenita neurogenic type

• Arthrogryposis multiplex congenita whistling face

• Arthrogryposis multiplex congenita, distal, X-linked

• Arthrogryposis renal dysfunction cholestasis syndrome

• Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay

• Arthrogryposis-like hand anomaly and sensorineural deafness

• Arts syndrome

• Ascher Syndrome

• Aspartylglycosaminuria

• Asternia

• Ataxia - hypogonadism - choroidal dystrophy

• Ataxia telangiectasia

• Ataxia with oculomotor apraxia type 1

• Ataxia with Oculomotor Apraxia Type 2

• Ataxia with oculomotor apraxia type 4

• Ataxia with vitamin E deficiency

• Atelosteogenesis type 1

• Atelosteogenesis type 2

• Atelosteogenesis type 3

• Atkin syndrome

• Atransferrinemia

• Atresia of small intestine

• Atrial myxoma, familial

• Atrial septal defect coronary sinus

• Atrial septal defect ostium primum

• Atrial septal defect sinus venosus

• Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease

• Atypical Rett syndrome

• Atypical Werner syndrome

• Auralcephalosyndactyly

• Auriculo-condylar syndrome

• Auriculoosteodysplasia

• Ausems Wittebol-Post Hennekam syndrome

• Autism with port-wine stain

• Autoimmune lymphoproliferative syndrome

• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

• Autoimmune polyglandular syndrome type 1

• Autoimmune polyglandular syndrome type 2

• Autosomal dominant Alport syndrome

• Autosomal dominant centronuclear myopathy

• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

• Autosomal dominant deafness-onychodystrophy syndrome

• Autosomal dominant distal renal tubular acidosis

• Autosomal dominant hyper IgE syndrome

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant leukodystrophy with autonomic disease

• Autosomal dominant multiple pterygium syndrome - See Distal arthrogryposis

• Autosomal dominant neuronal ceroid lipofuscinosis 4B

• Autosomal dominant nocturnal frontal lobe epilepsy

• Autosomal dominant non-syndromic intellectual disability

• Autosomal dominant optic atrophy and cataract

• Autosomal dominant optic atrophy plus syndrome

• Autosomal dominant palmoplantar keratoderma and congenital alopecia

• Autosomal dominant partial epilepsy with auditory features

• Autosomal dominant polycystic kidney disease - Not a rare disease

• Autosomal dominant pseudohypoaldosteronism type 1

• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1

• Autosomal dominant spondyloepiphyseal dysplasia tarda

• Autosomal dominant tubulointerstitial kidney disease due to REN mutations

• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

• Autosomal dominant vitreoretinochoroidopathy

• Autosomal recessive Alport syndrome

• Autosomal recessive axonal neuropathy with neuromyotonia

• Autosomal recessive candidiasis familial chronic mucocutaneous

• Autosomal recessive centronuclear myopathy

• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

• Autosomal recessive distal osteolysis syndrome

• Autosomal recessive early-onset inflammatory bowel disease

• Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease

• Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease

• Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis

• Autosomal recessive palmoplantar keratoderma and congenital alopecia

• Autosomal recessive polycystic kidney disease

• Autosomal recessive primary microcephaly

• Autosomal recessive protein C deficiency

• Autosomal recessive pseudohypoaldosteronism type 1

• Autosomal recessive spastic ataxia 4

• Autosomal recessive spastic paraplegia type 49

• Autosomal recessive spinocerebellar ataxia 9

• Axenfeld-Rieger syndrome

• Axial mesodermal dysplasia spectrum

• Axial spondylometaphyseal dysplasia

• Ayazi syndrome

• B4GALT1-CDG (CDG-IId)

• Baetz-Greenwalt syndrome

• Bagatelle Cassidy syndrome

• Baller-Gerold syndrome

• Bamforth syndrome

• Bangstad syndrome

• Banki syndrome

• Bannayan-Riley-Ruvalcaba syndrome

• Bantu siderosis

• BAP1 tumor predisposition syndrome

• Baraitser-Winter syndrome

• Barakat syndrome

• Barber Say syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome 1

• Bardet-Biedl syndrome 10

• Bardet-Biedl syndrome 11

• Bardet-Biedl syndrome 12

• Bardet-Biedl syndrome 2

• Bardet-Biedl syndrome 3

• Bardet-Biedl syndrome 4

• Bare lymphocyte syndrome 2

• Barraquer-Simons syndrome

• Barth syndrome

• Bartter syndrome type 3

• Bartter syndrome type 4

• Battaglia-Neri syndrome

• Bazex-Dupre-Christol syndrome

• Beare-Stevenson cutis gyrata syndrome

• Becker muscular dystrophy

• Becker nevus syndrome

• Beckwith-Wiedemann syndrome

• Beemer Ertbruggen syndrome

• Behr syndrome

• Benallegue Lacete syndrome

• Benign essential blepharospasm

• Benign familial neonatal epilepsy

• Benign familial neonatal-infantile seizures

• Benign hereditary chorea

• Berk-Tabatznik syndrome

• Best vitelliform macular dystrophy

• Beta ketothiolase deficiency

• Beta-Propeller Protein-Associated Neurodegeneration

• Bethlem myopathy

• Beukes familial hip dysplasia

• Biemond syndrome

• Biemond syndrome 2

• Bietti crystalline corneoretinal dystrophy

• Bifid nose

• Bifid nose with or without anorectal and renal anomalies

• Bilateral frontal polymicrogyria

• Bilateral frontoparietal polymicrogyria

• Bilateral generalized polymicrogyria

• Bilateral parasagittal parieto-occipital polymicrogyria

• Bilateral perisylvian polymicrogyria

• Bile acid synthesis defect, congenital, 4

• Biliary atresia

• Biotin-thiamine-responsive basal ganglia disease

• Biotinidase deficiency

• Birk-Barel syndrome

• Birt-Hogg-Dube syndrome

• Bixler Christian Gorlin syndrome

• Bjornstad syndrome

• Blau syndrome

• Bleeding disorder due to P2RY12 defect

• Blepharo-cheilo-odontic syndrome

• Blepharonasofacial malformation syndrome

• Blepharophimosis with ptosis, syndactyly, and short stature

• Blepharophimosis-epicanthus inversus-ptosis syndrome

• Blepharoptosis myopia ectopia lentis

• Bloom syndrome

• Blount disease

• Blue cone monochromatism

• Blue diaper syndrome

• Blue rubber bleb nevus syndrome

• BOD syndrome

• Bohring-Opitz syndrome

• Bone dysplasia Azouz type

• Bone dysplasia lethal Holmgren type

• Book syndrome

• Boomerang dysplasia

• BOR-Duane hydrocephalus contiguous gene syndrome

• Borjeson-Forssman-Lehmann syndrome

• Bork Stender Schmidt syndrome

• Bowen-Conradi syndrome

• Bowing of legs, anterior with dwarfism

• Boylan Dew Greco syndrome

• Brachioskeletogenital syndrome

• Brachycephalofrontonasal dysplasia

• Brachydactylous dwarfism Mseleni type

• Brachydactyly elbow wrist dysplasia

• Brachydactyly long thumb type

• Brachydactyly Mononen type

• Brachydactyly preaxial with hallux varus and thumb abduction

• Brachydactyly tibial hypoplasia

• Brachydactyly type A1

• Brachydactyly type A2

• Brachydactyly type A3

• Brachydactyly type A4

• Brachydactyly type A5

• Brachydactyly type A6

• Brachydactyly type A7

• Brachydactyly type B

• Brachydactyly type C

• Brachydactyly type E

• Brachydactyly types B and E combined

• Brachydactyly with hypertension

• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

• Brachyolmia type 3

• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

• Bradyopsia

• Brain dopamine-serotonin vesicular transport disease

• Brain-lung-thyroid syndrome

• Branchial arch syndrome X-linked

• Branchiooculofacial syndrome

• Branchiootic syndrome

• Branchiootorenal syndrome

• BRCA1 hereditary breast and ovarian cancer syndrome

• BRCA2 hereditary breast and ovarian cancer syndrome

• Brittle cornea syndrome

• Brody myopathy

• Bronchogenic cyst

• Bronchopulmonary dysplasia

• Brooks Wisniewski Brown syndrome

• Bruck syndrome 1

• Bruck syndrome 2

• Brugada syndrome

• Bullous dystrophy hereditary macular type

• Buschke Ollendorff syndrome

• C syndrome

• C1q deficiency

• Cabezas syndrome

• CAD-CDG

• CADASIL

• Caffey disease

• Calabro syndrome

• Calloso-genital dysplasia

• Camera Marugo Cohen syndrome

• Campomelia Cumming type

• Campomelic dysplasia

• Camptobrachydactyly

• Camptodactyly arthropathy coxa vara pericarditis syndrome

• Camptodactyly syndrome Guadalajara type 1

• Camptodactyly syndrome Guadalajara type 2

• Camptodactyly syndrome Guadalajara type 3

• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia

• Camptodactyly, tall stature, and hearing loss syndrome

• Camptodactyly-ichthyosis syndrome

• Camptomelic syndrome long limb type

• Camurati Engelmann disease, type 2

• Camurati-Engelmann disease

• Canavan disease

• Cantu Sanchez-Corona Fragoso syndrome

• Cantu syndrome

• Cap myopathy

• Carbamoyl phosphate synthetase 1 deficiency

• Carbonic anhydrase VA deficiency

• Cardiac-Valvular Ehlers-Danlos syndrome

• Cardioauditory syndrome of Sanchez Cascos

• Cardioencephalomyopathy

• Cardiofaciocutaneous syndrome

• Cardiomelic syndrome Stratton Koehler type

• Cardiomyopathy and deafness due to tRNA lysine gene mutation

• Cardiomyopathy cataract hip spine disease

• Cardiomyopathy dilated with woolly hair and keratoderma

• Cardioskeletal syndrome Kuwaiti type

• Carey-Fineman-Ziter syndrome

• Carney complex

• Carney triad

• Carnitine palmitoyl transferase 1A deficiency

• Carnitine-acylcarnitine translocase deficiency

• Carnosinemia

• Caroli disease

• Carpenter syndrome

• Carpotarsal osteochondromatosis

• Cartilage-hair hypoplasia

• Cat eye syndrome

• Cataract ataxia deafness

• Cataract congenital Volkmann type

• Cataract microcornea syndrome

• Cataract, total congenital

• Cataracts, ataxia, short stature, and mental retardation

• Catatrichy

• Catecholaminergic polymorphic ventricular tachycardia

• Catel Manzke syndrome

• Caudal appendage deafness

• Caudal regression sequence

• Central core disease

• Cerebellar ataxia and hypogonadotropic hypogonadism

• Cerebellar ataxia ectodermal dysplasia

• Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss

• Cerebellar hypoplasia

• Cerebellar hypoplasia tapetoretinal degeneration

• Cerebellar hypoplasia with endosteal sclerosis

• Cerebelloparenchymal disorder 3

• Cerebellum agenesis hydrocephaly

• Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

• Cerebral cavernous malformation - Not a rare disease

• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

• Cerebral folate deficiency

• Cerebral gigantism jaw cysts

• Cerebro-costo-mandibular syndrome

• Cerebro-facio-articular syndrome

• Cerebro-oculo-facio-skeletal syndrome

• Cerebrocostomandibular-like syndrome

• Cerebrooculonasal syndrome

• Cerebrotendinous xanthomatosis

• Ceroid lipofuscinosis neuronal 1

• Cerulean cataract

• Cervical hypertrichosis peripheral neuropathy

• Chanarin-Dorfman syndrome

• Char syndrome

• Charcot-Marie-Tooth disease type 1A

• Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 1E

• Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2B

• Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2F

• Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2P

• Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 2R

• Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 4B2

• Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease

• CHARGE syndrome

• Charlie M syndrome

• Chediak-Higashi syndrome

• Cherubism

• Chiari malformation type 2

• Chiari malformation type 3

• CHILD syndrome

• Childhood apraxia of speech

• Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

• Childhood hypophosphatasia

• Childhood-onset nemaline myopathy

• Chitayat Meunier Hodgkinson syndrome

• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

• Cholesteryl ester storage disease

• Chondrocalcinosis 2

• Chondrodysplasia acromesomelic with genital anomalies

• Chondrodysplasia Blomstrand type

• Chondrodysplasia calcificans metaphysealis

• Chondrodysplasia punctata 1, X-linked recessive

• Chondrodysplasia punctata Sheffield type

• Chondrodysplasia with joint dislocations, GPAPP type

• Chondrodysplasia, Grebe type

• Chordoma

• Chorea-acanthocytosis

• Choroidal dystrophy central areolar

• Choroideremia

• Christianson syndrome

• Chromosome 10p deletion

• Chromosome 10p duplication

• Chromosome 10q deletion

• Chromosome 12p duplication

• Chromosome 13q deletion

• Chromosome 15, trisomy mosaicism

• Chromosome 15q deletion

• Chromosome 16 trisomy

• Chromosome 16p13.3 deletion syndrome

• Chromosome 16p13.3 duplication

• Chromosome 17p duplication

• Chromosome 17p13.1 deletion syndrome

• Chromosome 17q deletion

• Chromosome 17q11.2 deletion syndrome

• Chromosome 18p deletion

• Chromosome 18p duplication

• Chromosome 18p tetrasomy

• Chromosome 19q13.11 deletion syndrome

• Chromosome 1p36 deletion syndrome

• Chromosome 1q21.1 duplication syndrome

• Chromosome 1q41-q42 deletion syndrome

• Chromosome 21, uniparental disomy

• Chromosome 21q deletion

• Chromosome 2q24 microdeletion syndrome

• Chromosome 3p- syndrome

• Chromosome 3q29 microduplication syndrome

• Chromosome 4p duplication

• Chromosome 5p duplication

• Chromosome 6q25 microdeletion syndrome

• Chromosome 8p23.1 deletion

• Chromosome 8q duplication

• Chromosome 9p deletion

• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

• Chronic granulomatous disease

• Chronic progressive external ophthalmoplegia

• Chudley Rozdilsky syndrome

• Chylomicron retention disease

• Chylothorax, congenital

• Chylous ascites

• Circumferential skin creases Kunze type

• Citrullinemia type II

• Clark-Baraitser syndrome

• Clasped thumbs, congenital

• Classical-like Ehlers-Danlos syndrome

• Cleft hand absent tibia

• Cleft palate short stature vertebral anomalies

• Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss

• Cleidocranial dysplasia

• Cleidocranial dysplasia recessive form

• Cleidorhizomelic syndrome

• Clouston syndrome

• CLOVES syndrome

• COACH syndrome

• COASY Protein-Associated Neurodegeneration

• Coats disease

• Cobb syndrome

• Cockayne syndrome

• Cockayne syndrome type I

• Cockayne syndrome type II

• Cockayne syndrome type III

• CODAS syndrome

• Coffin-Lowry syndrome

• Coffin-Siris syndrome

• COG1-CDG (CDG-IIg)

• COG4-CDG (CDG-IIj)

• COG5-CDG (CDG-IIi)

• COG7-CDG (CDG-IIe)

• COG8-CDG (CDG-IIh)

• Cogan-Reese syndrome

• Cohen syndrome

• Cold-induced sweating syndrome

• Cole Carpenter syndrome

• Collins Pope syndrome

• Coloboma of alar-nasal cartilages with telecanthus

• Coloboma of macula

• Coloboma of macula with type B brachydactyly

• Colpocephaly

• Combined immunodeficiency with skin granulomas

• Combined oxidative phosphorylation deficiency 16

• Combined pituitary hormone deficiencies, genetic forms

• Common variable immunodeficiency

• Complement component 2 deficiency

• Complete androgen insensitivity syndrome

• Condensing osteitis of the clavicle

• Conductive deafness with malformed external ear

• Cone dystrophy

• Cone-rod dystrophy

• Cone-rod dystrophy 3

• Cone-rod dystrophy 5

• Cone-rod dystrophy 6

• Cone-rod dystrophy amelogenesis imperfecta

• Cone-rod dystrophy X-linked 1

• Cone-rod dystrophy X-linked 2

• Cone-rod dystrophy X-linked 3

• Congenital absence of the sternocleidomastoid muscle

• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

• Congenital amegakaryocytic thrombocytopenia

• Congenital analbuminemia

• Congenital anosmia

• Congenital bilateral absence of the vas deferens

• Congenital bile acid synthesis defect, type 1

• Congenital bile acid synthesis defect, type 2

• Congenital central hypoventilation syndrome

• Congenital chloride diarrhea

• Congenital contractural arachnodactyly

• Congenital cytomegalovirus

• Congenital deafness with vitiligo and achalasia

• Congenital diaphragmatic hernia

• Congenital dyserythropoietic anemia type 1

• Congenital dyserythropoietic anemia type 2

• Congenital dyserythropoietic anemia type 3

• Congenital ectodermal dysplasia with hearing loss

• Congenital erythropoietic porphyria

• Congenital extrahepatic portosystemic shunt

• Congenital femoral deficiency

• Congenital fiber type disproportion

• Congenital fibrosis of extraocular muscles

• Congenital generalized lipodystrophy

• Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy

• Congenital generalized lipodystrophy type 4

• Congenital heart block

• Congenital hydrocephalus

• Congenital hyperinsulinism

• Congenital insensitivity to pain

• Congenital insensitivity to pain with anhidrosis

• Congenital intrauterine infection-like syndrome

• Congenital lactase deficiency

• Congenital laryngeal palsy

• Congenital lipoid adrenal hyperplasia

• Congenital lobar emphysema

• Congenital microcoria

• Congenital mirror movement disorder

• Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy

• Congenital muscular dystrophy type 1A

• Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy

• Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)

• Congenital myasthenic syndrome associated with acetylcholine receptor deficiency

• Congenital myasthenic syndrome with episodic apnea

• Congenital nephrotic syndrome Finnish type

• Congenital primary aphakia

• Congenital pseudoarthrosis

• Congenital pulmonary alveolar proteinosis

• Congenital pulmonary lymphangiectasia

• Congenital rubella

• Congenital sucrase-isomaltase deficiency

• Congenital thrombotic thrombocytopenic purpura

• Congenital toxoplasmosis - Not a rare disease

• Congenital tracheal stenosis

• Congenital tracheomalacia

• Congenital varicella syndrome

• Congenital vertical talus

• Congenitally corrected transposition of the great arteries

• Continuous spike-wave during slow sleep syndrome

• Convulsions, benign familial infantile, 1

• Copper deficiency, familial benign

• Cor triatriatum dexter

• Cor triatriatum sinister

• Corneal dystrophy and perceptive deafness

• Corneal dystrophy Avellino type

• Corneal dystrophy crystalline of Schnyder

• Corneal dystrophy Thiel Behnke type

• Corneal endothelial dystrophy type 2

• Corneal hypesthesia, familial

• Cornelia de Lange syndrome

• Corneodermatoosseous syndrome

• Corpus callosum agenesis double urinary collecting

• Cortical blindness-intellectual disability-polydactyly syndrome

• Cortical defects wormian bones and dentinogenesis imperfecta

• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

• Corticobasal degeneration

• Corticosteroid-binding globulin deficiency

• Costello syndrome

• Cousin syndrome

• Cowden syndrome

• Crandall syndrome

• Crane-Heise syndrome

• Craniodiaphyseal dysplasia

• Cranioectodermal dysplasia

• Craniofacial deafness hand syndrome

• Craniofacial dysostosis with diaphyseal hyperplasia

• Craniofacial dyssynostosis

• Craniofrontonasal dysplasia

• Craniometaphyseal dysplasia, autosomal dominant

• Craniometaphyseal dysplasia, autosomal recessive type

• Craniopharyngioma

• Craniorachischisis

• Craniosynostosis

• Craniosynostosis, anal anomalies, and porokeratosis

• Craniotelencephalic dysplasia

• Cri du chat syndrome

• Crigler Najjar syndrome, type 1

• Crigler-Najjar syndrome type 2

• Crome syndrome

• Cronkhite-Canada disease

• Crouzon syndrome

• Crumpled helices and small mouth

• Cryptomicrotia brachydactyly syndrome

• Cryptophthalmos

• Culler-Jones syndrome

• Curly hair-acral keratoderma-caries syndrome

• Currarino triad

• Curry Jones syndrome

• Cutis laxa, autosomal dominant

• Cutis laxa, autosomal recessive type 1

• Cutis marmorata telangiectatica congenita

• Cyclic neutropenia

• Cylindrical spirals myopathy

• Cyprus facial neuromusculoskeletal syndrome

• Cystic fibrosis

• Cystic hygroma

• Cystic medial necrosis of aorta

• Cystinosis

• Czech dysplasia metatarsal type

• D ercole syndrome

• D-2-hydroxyglutaric aciduria

• D-bifunctional protein deficiency

• D-glycericacidemia

• Daentl Towsend Siegel syndrome

• Dahlberg Borer Newcomer syndrome

• Daish Hardman Lamont syndrome

• Dandy-Walker complex

• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

• Dandy-Walker like malformation with atrioventricular septal defect

• Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

• Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia

• Dandy-Walker malformation with postaxial polydactyly

• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus

• Daneman Davy Mancer syndrome

• Danon disease

• Darier disease

• Dauwerse-Peters syndrome

• Davenport Donlan syndrome

• DCMA syndrome

• DDOST-CDG (CDG-Ir)

• De Barsy syndrome

• De Sanctis-Cacchione syndrome

• DEAF1-associated disorders

• Deafness and myopia syndrome

• Deafness conductive ptosis skeletal anomalies

• Deafness enamel hypoplasia nail defects

• Deafness hypogonadism syndrome

• Deafness oligodontia syndrome

• Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

• Deafness, autosomal dominant nonsyndromic sensorineural 17

• Deafness, autosomal dominant nonsyndromic sensorineural 22

• Deafness, autosomal dominant nonsyndromic sensorineural 23

• Deafness, autosomal dominant nonsyndromic sensorineural 24

• Deafness, autosomal dominant nonsyndromic sensorineural 3

• Deafness, autosomal dominant nonsyndromic sensorineural 53

• Deafness, autosomal recessive 51

• Deafness, dystonia, and cerebral hypomyelination

• Deafness, epiphyseal dysplasia, short stature

• Deafness, X-linked 2

• Deafness-infertility syndrome

• Deafness-lymphedema-leukemia syndrome

• Deficiency of interleukin-1 receptor antagonist

• Dehydrated hereditary stomatocytosis

• Delayed membranous cranial ossification

• Dementia familial British

• Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

• Dense deposit disease

• Dentatorubral-pallidoluysian atrophy

• Dentin dysplasia sclerotic bones

• Dentin dysplasia, coronal

• Dentin dysplasia, type 1

• Dentinogenesis imperfecta

• Dentinogenesis imperfecta type 2

• Dentinogenesis imperfecta type 3

• Denys-Drash syndrome

• Dermatofibrosarcoma protuberans

• Dermatoosteolysis Kirghizian type

• Dermatopathia pigmentosa reticularis

• Dermatosparaxis Ehlers-Danlos syndrome

• Dermochondrocorneal dystrophy of François

• Dermoodontodysplasia

• Desbuquois syndrome

• Desmoid tumor

• Desmosterolosis

• Devriendt syndrome

• Dextrocardia

• Dextrocardia with unusual facies and microphthalmia

• DFNB1

• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification

• Diamond-Blackfan anemia

• Diaphyseal medullary stenosis with malignant fibrous histiocytoma

• Diastrophic dysplasia

• Dicarboxylic aminoaciduria

• Dihydrolipoamide dehydrogenase deficiency

• Dihydropteridine reductase deficiency

• Dihydropyrimidinase deficiency

• Dihydropyrimidine dehydrogenase deficiency - Not a rare disease

• Dilated cardiomyopathy

• Dilated cardiomyopathy with hypergonadotropic hypogonadism

• Diphallia

• Diploid-triploid mosaicism

• Disseminated superficial actinic porokeratosis

• Distal arthrogryposis type 1

• Distal arthrogryposis type 5

• Distal arthrogryposis type 5D - See Distal arthrogryposis

• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies

• Distal myopathy with vocal cord weakness

• DK phocomelia syndrome

• DOLK-CDG (CDG-Im)

• Dominant dystrophic epidermolysis bullosa

• Donnai-Barrow syndrome

• DOOR syndrome

• Dopa-responsive dystonia

• Dopamine beta hydroxylase deficiency

• Dopamine transporter deficiency syndrome

• Double inferior vena cava - Not a rare disease

• Dowling-Degos disease

• DPAGT1-CDG (CDG-Ij)

• DPM1-CDG (CDG-Ie)

• DPM2-CDG

• DPM3-CDG (CDG-Io)

• Drachtman Weinblatt Sitarz syndrome

• Dravet syndrome

• Duane syndrome

• Duane-radial ray syndrome

• Dubin-Johnson syndrome

• Dubowitz syndrome

• Duchenne muscular dystrophy

• Duodenal atresia

• Duplication of urethra

• Dwarfism - Not a rare disease

• Dwarfism familial with muscle spasms

• Dwarfism Levi type

• Dwarfism, low-birth-weight type with unresponsiveness to growth hormone

• Dwarfism, proportionate with hip dislocation

• Dyggve-Melchior-Clausen syndrome

• Dykes Markes Harper syndrome

• Dyschondrosteosis nephritis

• Dyschromatosis symmetrica hereditaria 1

• Dyschromatosis universalis hereditaria

• Dysequilibrium syndrome

• Dysfibrinogenemia

• Dyskeratosis congenita

• Dyskeratosis congenita autosomal dominant

• Dyskeratosis congenita autosomal recessive

• Dyskeratosis congenita X-linked

• Dysosteosclerosis

• Dysplasia epiphysealis hemimelica

• Dyssegmental dysplasia and glaucoma

• Dyssegmental dysplasia Rolland-Desbuquois type

• Dyssegmental dysplasia Silverman-Handmaker type

• Dystelephalangy

• Dystonia 2, torsion, autosomal recessive

• DYT-PRKRA

• DYT-THAP1

• DYT-TOR1A

• DYT-TUBB4A

• Early Infantile Epileptic Encephalopathy

• Early infantile epileptic encephalopathy 25

• Early-onset anterior polar cataract

• Early-onset parkinsonism-intellectual disability syndrome

• Early-onset zonular cataract

• Early-onset, autosomal dominant Alzheimer disease

• Ebstein's anomaly

• Ectodermal dysplasia

• Ectodermal dysplasia skin fragility syndrome

• Ectodermal dysplasia trichoodontoonychial type

• Ectodermal dysplasia with natal teeth Turnpenny type

• Ectodermal dysplasia, hidrotic, Christianson-Fourie type

• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features

• EEC syndrome

• EEM syndrome

• Ehlers-Danlos syndrome, dysfibronectinemic type

• Eisenmenger syndrome

• Elastosis perforans serpiginosa

• Ellis Yale Winter syndrome

• Ellis-Van Creveld syndrome

• Emanuel syndrome

• Encephalocele

• Encephalocraniocutaneous lipomatosis

• Encephalopathy due to prosaposin deficiency - See Sphingolipidosis

• Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration

• Epidermodysplasia verruciformis

• Epidermolysa bullosa simplex with muscular dystrophy

• Epidermolysis bullosa simplex with mottled pigmentation

• Epidermolysis bullosa simplex, Dowling-Meara type

• Epidermolysis bullosa simplex, localized

• Epidermolysis bullosa simplex, Ogna type

• Epidermolysis bullosa, lethal acantholytic

• Epidermolytic ichthyosis

• Epidermolytic palmoplantar keratoderma

• Epilepsy juvenile absence

• Epilepsy with myoclonic-atonic seizures

• Epiphyseal dysplasia hearing loss dysmorphism

• Epiphyseal dysplasia multiple with early-onset diabetes mellitus

• Episodic ataxia with nystagmus

• Ermine phenotype

• Erythrokeratoderma en cocardes

• Erythromelalgia

• Erythropoietic protoporphyria

• Erythropoietic uroporphyria associated with myeloid malignancy

• Esophageal atresia

• Ethylmalonic encephalopathy

• Eunuchoidism familial hypogonadotropic

• Exstrophy of the bladder

• Fabry disease

• FACES syndrome

• Facial ectodermal dysplasia

• Facial onset sensory and motor neuronopathy

• Facio thoraco genital syndrome

• Faciocardiorenal syndrome

• Facioscapulohumeral muscular dystrophy

• Factor V deficiency

• Factor VII deficiency

• Factor X deficiency

• Factor XI deficiency

• Factor XII deficiency

• Factor XIII deficiency

• Fallot complex with severe mental and growth retardation

• Familial amyloidosis, Finnish type

• Familial atrial fibrillation

• Familial atypical multiple mole melanoma syndrome - Not a rare disease

• Familial avascular necrosis of the femoral head

• Familial bilateral striatal necrosis

• Familial breast cancer - Not a rare disease

• Familial caudal dysgenesis

• Familial cold autoinflammatory syndrome

• Familial congenital palsy of trochlear nerve

• Familial cutaneous collagenoma

• Familial cylindromatosis

• Familial dilated cardiomyopathy

• Familial Dupuytren contracture - Not a rare disease

• Familial dysautonomia

• Familial encephalopathy with neuroserpin inclusion bodies

• Familial exudative vitreoretinopathy

• Familial focal epilepsy with variable foci

• Familial glucocorticoid deficiency

• Familial HDL deficiency

• Familial hemiplegic migraine

• Familial hemophagocytic lymphohistiocytosis

• Familial hyperaldosteronism type 2

• Familial hyperaldosteronism type III

• Familial hyperthyroidism due to mutations in TSH receptor

• Familial hypocalciuric hypercalcemia type 1

• Familial hypocalciuric hypercalcemia type 2

• Familial hypocalciuric hypercalcemia type 3

• Familial joint instability syndrome

• Familial LCAT deficiency

• Familial lipoprotein lipase deficiency

• Familial Mediterranean fever

• Familial multiple lipomatosis

• Familial osteochondritis dissecans

• Familial pancreatic cancer

• Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy

• Familial partial lipodystrophy associated with PPARG mutations

• Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy

• Familial partial lipodystrophy type 2

• Familial partial lipodystrophy type Köbberling

• Familial platelet disorder with associated myeloid malignancy

• Familial porencephaly

• Familial progressive cardiac conduction defect

• Familial prostate cancer

• Familial reactive perforating collagenosis

• Familial thoracic aortic aneurysm and aortic dissection

• Familial thyroglossal duct cyst

• Familial visceral myopathy with external ophthalmoplegia

• Familiar chronic mucocutaneous candidiasis - Not a rare disease

• Familiar or sporadic hemiplegic migraine

• Fanconi anemia

• Fanconi Bickel syndrome

• Fanconi syndrome

• Farber disease

• Fatal familial insomnia

• Fatty acid hydroxylase-associated neurodegeneration

• Faye-Petersen-Ward-Carey syndrome

• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

• Feigenbaum Bergeron Richardson syndrome

• Feingold syndrome

• Femoral facial syndrome

• Femur bifid with monodactylous ectrodactyly

• Femur fibula ulna syndrome

• Fertile eunuch syndrome

• Fetal akinesia deformation sequence

• Fetal aminopterin syndrome

• Fetal cystic hygroma

• Fetal hydantoin syndrome

• Fetal methylmercury syndrome

• Fetal retinoid syndrome

• Fetal thalidomide syndrome

• Fetal valproate syndrome

• FG syndrome

• FG syndrome 2

• FG syndrome 3

• Fibro-adipose vascular anomaly

• Fibrochondrogenesis

• Fibrodysplasia ossificans progressiva

• Fibrous dysplasia

• Fibular aplasia ectrodactyly

• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

• Fibular hemimelia

• Fibular hypoplasia and complex brachydactyly

• Filippi syndrome

• Fine-Lubinsky syndrome

• Fingerprint body myopathy

• Fish-eye disease

• Fitzsimmons syndrome

• Fitzsimmons Walson Mellor syndrome

• Fitzsimmons-Guilbert syndrome

• Floating-Harbor syndrome

• Flynn Aird syndrome

• Focal cortical dysplasia of Taylor

• Focal dermal hypoplasia

• Focal facial dermal dysplasia

• Focal segmental glomerulosclerosis

• Follicle-stimulating hormone deficiency, isolated

• Fountain syndrome

• FOXG1 syndrome

• Fragile X syndrome

• Fragile XE syndrome

• Frank Ter Haar syndrome

• Fraser syndrome

• Frasier syndrome

• Free sialic acid storage disease

• Freeman Sheldon syndrome

• Frias syndrome

• Friedreich ataxia

• Frints De Smet Fabry Fryns syndrome

• Frontofacionasal dysplasia

• Frontometaphyseal dysplasia

• Frontonasal dysplasia

• Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia

• Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia

• Frontorhiny - See Frontonasal dysplasia

• Frontotemporal dementia, ubiquitin-positive

• Froster-Huch syndrome

• Fructose-1,6-bisphosphatase deficiency

• Fryns Hofkens Fabry syndrome

• Fryns syndrome

• Fuchs endothelial corneal dystrophy - Not a rare disease

• Fucosidosis

• Fuhrmann syndrome

• Fukuyama type muscular dystrophy

• Fumarase deficiency

• Fused mandibular incisors

• Galactokinase deficiency

• Galactosemia

• Galactosialidosis

• Galloway-Mowat syndrome

• Game Friedman Paradice syndrome

• Gamma aminobutyric acid transaminase deficiency

• Gamma-cystathionase deficiency

• GAPO syndrome

• Gardner syndrome

• Garret Tripp syndrome

• Gastrocutaneous syndrome

• Gastrointestinal Stromal Tumors

• Gastroschisis

• GATAD2B-associated neurodevelopmental disorder

• Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease

• Gaucher disease perinatal lethal

• Gaucher disease type 1

• Gaucher disease type 2

• Gaucher disease type 3

• Gay Feinmesser Cohen syndrome

• Geleophysic dwarfism

• Gemignani syndrome

• Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa

• Generalized pustular psoriasis

• Genito palato cardiac syndrome

• Genitopatellar syndrome

• Genoa syndrome

• Genochondromatosis

• Genu valgum, st Helena familial

• Genuine diffuse phlebectasia

• Geroderma osteodysplastica

• Gerstmann-Straussler-Scheinker disease

• Gestational trophoblastic tumor

• Ghosal hematodiaphyseal dysplasia syndrome

• Ghose Sachdev Kumar syndrome

• Giant axonal neuropathy

• Giant congenital nevus

• Giant platelet syndrome

• Gillespie syndrome

• Gingival fibromatosis with distinctive facies

• Gingival fibromatosis with hypertrichosis

• Gitelman syndrome

• Glanzmann thrombasthenia

• Glaucoma sleep apnea

• Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome

• Globozoospermia

• Glomerulonephritis with sparse hair and telangiectases

• Glomerulopathy with fibronectin deposits 1

• Glomerulopathy with fibronectin deposits 2

• Glucocorticoid-remediable aldosteronism

• Glucose transporter type 1 deficiency syndrome

• Glucose-galactose malabsorption

• Glutamate formiminotransferase deficiency

• Glutamine deficiency, congenital

• Glutaric acidemia type I

• Glutaric acidemia type II

• Glutaric acidemia type III

• Glutathionuria

• Glycine N-methyltransferase deficiency

• Glycogen storage disease type 0, liver

• Glycogen storage disease type 12

• Glycogen storage disease type 13

• Glycogen storage disease type 1A

• Glycogen storage disease type 1B

• Glycogen storage disease type 3

• Glycogen storage disease type 4

• Glycogen storage disease type 5

• Glycogen storage disease type 6

• Glycogen storage disease type 7

• Glycoprotein VI deficiency

• GM1 gangliosidosis type 1

• GM1 gangliosidosis type 2

• GM1 gangliosidosis type 3

• GM3 synthase deficiency

• GMS syndrome

• Gnathodiaphyseal dysplasia

• Goldberg-Shprintzen megacolon syndrome

• Goldenhar disease

• Goldmann-Favre syndrome

• Gomez Lopez Hernandez syndrome

• Gordon syndrome

• Gorham's disease

• Gorlin Chaudhry Moss syndrome

• GOSR2-related progressive myoclonus ataxia

• Gracile bone dysplasia

• GRACILE syndrome

• Graham Boyle Troxell syndrome

• Graham-Cox syndrome

• Graham-Little-Piccardi-Lassueur syndrome

• Grant syndrome

• Gray platelet syndrome

• Greenberg dysplasia

• Greig cephalopolysyndactyly syndrome

• Griscelli syndrome type 1

• Griscelli syndrome type 2

• Griscelli syndrome type 3

• Groll Hirschowitz syndrome

• Growth hormone insensitivity with immunodeficiency

• Grubben de Cock Borghgraef syndrome

• GTP cyclohydrolase I deficiency

• GTPCH1-deficient DRD

• Guanidinoacetate methyltransferase deficiency

• Guizar Vasquez Sanchez Manzano syndrome

• Gurrieri syndrome

• Gyrate atrophy of choroid and retina

• Hailey-Hailey disease

• Haim-Munk syndrome

• Hair defect-photosensitivity-intellectual disability syndrome

• Hairy elbows

• Halal syndrome

• Hall-Riggs syndrome

• Hallermann-Streiff syndrome

• Hamanishi Ueba Tsuji syndrome

• Hand and foot deformity with flat facies

• Hand foot uterus syndrome

• Hanhart syndrome

• Hard skin syndrome Parana type

• Hardikar syndrome

• Harding ataxia

• Harlequin ichthyosis

• Harlequin syndrome

• Harrod Doman Keele syndrome

• Hartnup disease

• Hawkinsinuria

• Heart defect-tongue hamartoma-polysyndactyly syndrome

• Heart-hand syndrome, Slovenian type

• Heart-hand syndrome, Spanish type

• HEC syndrome

• Hemangioma thrombocytopenia syndrome

• Hemangiomatosis, familial pulmonary capillary

• Hemi 3 syndrome

• Hemifacial hyperplasia strabismus

• Hemifacial microsomia

• Hemimegalencephaly

• Hemochromatosis type 2

• Hemochromatosis type 3

• Hemochromatosis type 4

• Hemoglobin C disease

• Hemoglobin E disease

• Hemoglobin SC disease

• Hemoglobin SE disease

• Hennekam syndrome

• Hepatic lipase deficiency

• Hepatic venoocclusive disease with immunodeficiency

• Hepatoerythropoietic porphyria

• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

• Hereditary antithrombin deficiency

• Hereditary congenital facial paresis

• Hereditary coproporphyria

• Hereditary diffuse gastric cancer

• Hereditary diffuse leukoencephalopathy with spheroids

• Hereditary elliptocytosis

• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

• Hereditary folate malabsorption

• Hereditary fructose intolerance

• Hereditary geniospasm

• Hereditary hemorrhagic telangiectasia

• Hereditary hemorrhagic telangiectasia type 2

• Hereditary hemorrhagic telangiectasia type 3

• Hereditary hemorrhagic telangiectasia type 4

• Hereditary hyperekplexia

• Hereditary koilonychia

• Hereditary leiomyomatosis and renal cell cancer

• Hereditary lymphedema type II

• Hereditary methemoglobinemia

• Hereditary motor and sensory neuropathy type 5

• Hereditary mucoepithelial dysplasia

• Hereditary multiple osteochondromas

• Hereditary neuralgic amyotrophy

• Hereditary neuropathy with liability to pressure palsies

• Hereditary pancreatitis

• Hereditary paraganglioma-pheochromocytoma

• Hereditary proximal myopathy with early respiratory failure

• Hereditary sensorimotor neuropathy with hyperelastic skin

• Hereditary sensory and autonomic neuropathy type 1E

• Hereditary sensory and autonomic neuropathy type 2

• Hereditary sensory and autonomic neuropathy type 7

• Hereditary sensory and autonomic neuropathy type V

• Hereditary sensory neuropathy type 1

• Hereditary spherocytosis

• Hereditary vascular retinopathy

• Hermansky Pudlak syndrome 2

• Hermansky-Pudlak syndrome

• Hernández-Aguirre Negrete syndrome

• Herpes simplex encephalitis

• Heterochromia iridis - Not a rare disease

• Heterotaxy

• HIBCH deficiency

• High molecular weight kininogen deficiency

• Hirschsprung disease type d brachydactyly

• Hirschsprung's disease

• His bundle tachycardia

• Histidinemia

• Histiocytosis-lymphadenopathy plus syndrome

• HMG CoA lyase deficiency

• Holocarboxylase synthetase deficiency

• Holoprosencephaly, recurrent infections, and monocytosis

• Holt-Oram syndrome

• Holzgreve syndrome

• Homocarnosinosis

• Homocystinuria due to CBS deficiency

• Homocystinuria due to MTHFR deficiency

• Horizontal gaze palsy with progressive scoliosis

• Hoyeraal Hreidarsson syndrome

• Human HOXA1 Syndromes

• Hunter-McAlpine syndrome

• Huntington disease

• Hurler syndrome

• Hurler–Scheie syndrome

• Hutterite cerebroosteonephrodysplasia syndrome

• Hyaline fibromatosis syndrome

• Hydranencephaly

• Hydrocephalus due to congenital stenosis of aqueduct of sylvius

• Hydrocephalus obesity hypogonadism

• Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly

• Hydrocephalus-cleft palate-joint contractures syndrome

• Hydroxykynureninuria

• Hyper-IgD syndrome

• Hyperbetaalaninemia

• Hyperbilirubinemia transient familial neonatal

• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

• Hyperferritinemia cataract syndrome

• Hyperinsulinism due to glucokinase deficiency

• Hyperinsulinism-hyperammonemia syndrome

• Hyperkalemic periodic paralysis

• Hyperkeratosis lenticularis perstans

• Hyperlipidemia type 3

• Hyperlipoproteinemia type 5

• Hyperlysinemia

• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

• Hypermobile Ehlers-Danlos syndrome

• Hyperostosis corticalis generalisata

• Hyperparathyroidism-jaw tumor syndrome

• Hyperphenylalaninemia due to dehydratase deficiency

• Hyperprolinemia

• Hyperprolinemia type 2

• Hypertelorism and tetralogy of Fallot

• Hyperthermia induced defects

• Hypertrichosis lanuginosa congenita

• Hypertrophic neuropathy of Dejerine-Sottas

• Hypertryptophanemia

• Hypocalcemia, autosomal dominant

• Hypochondroplasia

• Hypofibrinogenemia, familial

• Hypohidrotic ectodermal dysplasia autosomal recessive

• Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

• Hypokalemic periodic paralysis

• Hypomandibular faciocranial dysostosis

• Hypomelanosis of Ito

• Hypomyelination and congenital cataract

• Hypomyelination with atrophy of basal ganglia and cerebellum

• Hypoparathyroidism-intellectual disability-dysmorphism syndrome

• Hypophosphatasia

• Hypophosphatemic rickets

• Hypoplastic left heart syndrome

• Hypospadias familial

• Hypospadias-intellectual disability, Goldblatt type syndrome

• Hypotelorism cleft palate hypospadias

• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response

• Hypotrichosis simplex

• Hypotrichosis-lymphedema-telangiectasia syndrome

• I cell disease

• ICF syndrome

• Ichthyosiform erythroderma, corneal involvement, deafness

• Ichthyosis alopecia eclabion ectropion mental retardation

• Ichthyosis bullosa of Siemens

• Ichthyosis cheek eyebrow syndrome

• Ichthyosis follicularis atrichia photophobia syndrome

• Ichthyosis hystrix, Curth Macklin type

• Ichthyosis lamellar 1

• Ichthyosis lamellar 2

• Ichthyosis lamellar 3

• Ichthyosis lamellar, autosomal dominant

• Ichthyosis prematurity syndrome

• Ichthyosis tapered fingers midline groove up

• Ichthyosis with hypotrichosis, autosomal recessive

• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

• Ichthyosis, mental retardation, dwarfism and renal impairment

• Idiopathic basal ganglia calcification childhood-onset

• Idiopathic CD4 positive T-lymphocytopenia

• Iida Kannari syndrome

• IL12RB1 deficiency

• IMAGe syndrome

• Imerslund-Grasbeck syndrome

• Iminoglycinuria

• Immune defect due to absence of thymus

• Immunodeficiency with hyper IgM type 1

• Immunodeficiency with hyper IgM type 2

• Immunodeficiency with hyper IgM type 3

• Immunodeficiency with hyper IgM type 4

• Immunodeficiency with hyper IgM type 5

• Immunodysregulation, polyendocrinopathy and enteropathy X-linked

• Imperforate oropharynx-costo vetebral anomalies

• Inclusion body myopathy 2

• Inclusion body myopathy 3

• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

• Incontinentia pigmenti

• Infantile axonal neuropathy

• Infantile cerebellar retinal degeneration

• Infantile choroidocerebral calcification syndrome

• Infantile convulsions and paroxysmal choreoathetosis, familial

• Infantile histiocytoid cardiomyopathy

• Infantile liver failure syndrome 1

• Infantile myofibromatosis

• Infantile neuroaxonal dystrophy

• Infantile onset spinocerebellar ataxia

• Infantile spasms broad thumbs

• Infantile-onset ascending hereditary spastic paralysis

• Infection-induced acute encephalopathy 3

• Iniencephaly

• Insulin-like growth factor 1 resistance to

• Insulin-like growth factor I deficiency

• Insulin-resistance type B

• Intellectual deficit - short stature - hypertelorism

• Intellectual deficit Buenos-Aires type

• Intellectual disability - athetosis - microphthalmia

• Intellectual disability - hypoplastic corpus callosum - preauricular tag

• Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

• Intellectual disability-developmental delay-contractures syndrome

• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

• Intellectual disability-severe speech delay-mild dysmorphism syndrome

• Intellectual disability-spasticity-ectrodactyly syndrome

• Intermediate congenital nemaline myopathy

• Intermediate severe Salla disease - See Free sialic acid storage disease

• Internal carotid agenesis

• Intestinal atresia multiple

• Intrauterine growth retardation with increased mitomycin C sensitivity

• Intrinsic factor deficiency

• IRAK-4 deficiency

• Iridogoniodysgenesis and skeletal anomalies

• Iris hypoplasia and glaucoma

• Iron-refractory iron deficiency anemia

• Irons Bhan syndrome

• IRVAN syndrome

• Isobutyryl-CoA dehydrogenase deficiency

• Isodicentric chromosome 15 syndrome

• Isolated ACTH deficiency

• Isolated anterior cervical hypertrichosis

• Isolated congenital megalocornea

• Isolated ectopia lentis

• Isolated growth hormone deficiency type 1A

• Isolated growth hormone deficiency type 1B

• Isolated growth hormone deficiency type 2

• Isolated growth hormone deficiency type 3

• Isotretinoin embryopathy like syndrome

• Isovaleric acidemia

• Ivemark syndrome

• IVIC syndrome

• Jackson-Weiss syndrome

• Jacobsen syndrome

• Jansen type metaphyseal chondrodysplasia

• Jejunal atresia

• Jejunal atresia with renal adysplasia

• Jervell Lange-Nielsen syndrome

• Jeune syndrome

• Johanson-Blizzard syndrome

• Johnson Munson syndrome

• Johnson neuroectodermal syndrome

• Johnston Aarons Schelley syndrome

• Jones syndrome

• Joubert syndrome

• Joubert syndrome with oculorenal anomalies

• Juberg Marsidi syndrome

• Juberg-Hayward syndrome

• Junctional epidermolysis bullosa generalized intermediate - See Epidermolysis bullosa

• Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa

• Juvenile amyotrophic lateral sclerosis

• Juvenile osteoporosis

• Juvenile Paget disease

• Juvenile polyposis syndrome

• Juvenile primary lateral sclerosis

• Juvenile retinoschisis

• Juvenile-onset dystonia

• Kabuki syndrome

• Kallmann syndrome

• Kallmann syndrome 1

• Kallmann syndrome 2

• Kanzaki disease

• Kaplan Plauchu Fitch syndrome

• Kaposi sarcoma

• Kaposiform Hemangioendothelioma

• Kapur Toriello syndrome

• Karak syndrome

• Kartagener syndrome

• Kaufman oculocerebrofacial syndrome

• KBG syndrome

• KCNQ2-Related Disorders

• Kearns-Sayre syndrome

• Kennedy disease

• Kenny-Caffey syndrome type 1

• Kenny-Caffey syndrome type 2

• Keratitis, hereditary

• Keratoderma palmoplantar deafness

• Keratoderma palmoplantar spastic paralysis

• Keratoderma palmoplantaris transgrediens

• Keratolytic winter erythema

• Keratosis follicularis dwarfism and cerebral atrophy

• Keratosis follicularis spinulosa decalvans

• Kernicterus

• Keutel syndrome

• KID syndrome

• Kindler syndrome

• King Denborough syndrome

• Kleeblattschaedel syndrome

• Kleine Levin syndrome

• Kleiner Holmes syndrome

• Klinefelter syndrome - Not a rare disease

• Klippel Feil syndrome

• Klippel-Trenaunay syndrome

• Kniest dysplasia

• Kniest like dysplasia lethal

• Kniest-like dysplasia with pursed lips and ectopia lentis

• Knobloch syndrome

• Knuckle pads, leuconychia and sensorineural deafness

• Kohlschutter Tonz syndrome

• Koolen de Vries syndrome

• Koone Rizzo Elias syndrome

• Kosztolanyi syndrome

• Kotzot-Richter syndrome

• Kowarski syndrome

• Kozlowski Warren Fisher syndrome

• Kozlowski-Krajewska syndrome

• Kuskokwim disease

• Kyphomelic dysplasia

• Kyphoscoliotic Ehlers-Danlos syndrome

• L-2-hydroxyglutaric aciduria

• L-arginine:glycine amidinotransferase deficiency

• Laband syndrome

• Lachiewicz Sibley syndrome

• Lacrimo-auriculo-dento-digital syndrome

• Lafora disease

• Laing distal myopathy

• Lambdoid synostosis

• Lambert syndrome

• Lamellar ichthyosis

• Landau-Kleffner syndrome

• Langer mesomelic dysplasia

• Laron syndrome

• Larsen syndrome

• Larsen-like syndrome

• Laryngomalacia

• Laryngoonychocutaneous syndrome - See Epidermolysis bullosa

• Larynx atresia

• Larynx, congenital partial atresia of

• Late-onset distal myopathy, Markesbery-Griggs type

• Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa

• Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

• Late-onset retinal degeneration

• Lateral meningocele syndrome

• Lateral semicircular canal malformation, familial, with external and middle ear abnormalities

• Lathosterolosis

• Lattice corneal dystrophy type 1

• Laurence-Moon syndrome

• Laurin-Sandrow syndrome

• LCHAD deficiency

• Le Marec Bracq Picaud syndrome

• Leber congenital amaurosis

• Leber congenital amaurosis 5 - See Leber congenital amaurosis

• Leber hereditary optic neuropathy

• Leber hereditary optic neuropathy with dystonia

• Left ventricular noncompaction

• Left-sided gallbladder

• Legg-Calve-Perthes disease

• Legius syndrome

• Leigh syndrome

• Leigh syndrome, French Canadian type

• Lelis syndrome

• Lennox-Gastaut syndrome

• Lenz Majewski hyperostotic dwarfism

• Lenz microphthalmia syndrome

• LEOPARD syndrome

• Leprechaunism

• Leri pleonosteosis

• Leri Weill dyschondrosteosis

• Lesch Nyhan syndrome

• Lethal chondrodysplasia Moerman type

• Lethal chondrodysplasia Seller type

• Lethal congenital contracture syndrome 1

• Lethal congenital contracture syndrome 2

• Lethal congenital contracture syndrome 3 - See Lethal congenital contracture syndrome

• Lethal short limb skeletal dysplasia Al Gazali type

• Leukocyte adhesion deficiency type 1

• Leukodystrophy

• Leukoencephalopathy - dystonia - motor neuropathy

• Leukoencephalopathy palmoplantar keratoderma

• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate

• Leukoencephalopathy with vanishing white matter

• Leukoencephalopathy-spondylometaphyseal dysplasia syndrome

• Leukonychia totalis

• Levic Stefanovic Nikolic syndrome

• Lhermitte-Duclos disease

• Li-Fraumeni syndrome

• Lichtenstein syndrome

• Liddle syndrome

• Ligneous conjunctivitis

• Limb deficiencies distal with micrognathia

• Limb-body wall complex

• Limb-girdle muscular dystrophy type 1A

• Limb-girdle muscular dystrophy type 1B

• Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2A

• Limb-girdle muscular dystrophy type 2B

• Limb-girdle muscular dystrophy type 2E

• Limb-girdle muscular dystrophy type 2F

• Limb-girdle muscular dystrophy type 2H

• Limb-girdle muscular dystrophy type 2I

• Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A

• Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy, type 2C

• Limb-girdle muscular dystrophy, type 2D

• Limb-girdle muscular dystrophy, type 2G

• Limb-mammary syndrome

• Lin-Gettig syndrome

• Linear and whorled nevoid hypermelanosis

• Linear nevus sebaceous syndrome

• LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy

• Lipedema - Not a rare disease

• Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy

• Lipoic acid synthetase deficiency

• Lipoid proteinosis of Urbach and Wiethe

• Lissencephaly 2

• Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa

• Loeys-Dietz syndrome

• Loeys-Dietz syndrome type 1

• Loeys-Dietz syndrome type 2

• Loeys-Dietz syndrome type 3

• Loeys-Dietz syndrome type 4

• Long QT syndrome 1

• Loose anagen hair syndrome

• Lopes Gorlin syndrome

• Lowe oculocerebrorenal syndrome

• Lowry Maclean syndrome

• Lowry Wood syndrome

• LRBA deficiency

• Lubinsky syndrome

• Lucey-Driscoll syndrome

• Lujan syndrome

• Lung agenesis

• Lymphangioleiomyomatosis

• Lymphedema and cerebral arteriovenous anomaly

• Lymphedema, microcephaly and chorioretinopathy syndrome

• Lymphedema-distichiasis syndrome

• Lynch syndrome - Not a rare disease

• Lysinuric protein intolerance

• Mac Dermot Winter syndrome

• Macrocephaly, benign familial

• Macrocephaly-short stature-paraplegia syndrome

• Macrodactyly of fingers

• Macrodactyly of toes

• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance

• Macroglossia

• Macrosomia with lethal microphthalmia

• Macrozoospermia

• Macular dystrophy, corneal type 1

• Macules hereditary congenital hypopigmented and hyperpigmented

• Madokoro Ohdo Sonoda syndrome

• Maffucci syndrome

• Majeed syndrome

• Male pseudohermaphroditism due to defective LH molecule

• Male pseudohermaphroditism intellectual disability syndrome, Verloes type

• Malignant Atrophic Papulosis

• Malignant hyperthermia

• Malignant hyperthermia arthrogryposis torticollis

• Malignant migrating partial seizures of infancy

• Malonyl-CoA decarboxylase deficiency

• MAN1B1-CDG

• Mandibuloacral dysplasia with type A lipodystrophy

• Mandibuloacral dysplasia with type B lipodystrophy

• Mandibulofacial dysostosis with microcephaly

• Manitoba oculotrichoanal syndrome

• Mannosidosis, beta A, lysosomal

• Manouvrier syndrome

• Marden Walker like syndrome

• Marden-Walker syndrome

• Marfan syndrome

• Marfanoid habitus-autosomal recessive intellectual disability syndrome

• Marie Unna congenital hypotrichosis

• Marinesco-Sjogren syndrome

• Marshall syndrome

• Marshall-Smith syndrome

• Martsolf syndrome

• Mastocytosis cutaneous with short stature conductive hearing loss and microtia

• Maternal hyperphenylalaninemia

• Maternally inherited diabetes and deafness

• Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young

• Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young

• Maxillonasal dysplasia, Binder type

• McCune-Albright syndrome

• McDonough syndrome

• McKusick Kaufman syndrome

• McLeod neuroacanthocytosis syndrome

• McPherson Clemens syndrome

• Meacham Winn Culler syndrome

• Meckel syndrome

• MECP2 duplication syndrome

• Medeira-Dennis-Donnai syndrome

• Median cleft of upper lip with polyps of facial skin and nasal mucosa

• Median nodule of the upper lip

• Medium-chain acyl-coenzyme A dehydrogenase deficiency

• Medrano Roldan syndrome

• Medulloblastoma

• Meesmann corneal dystrophy

• Megacystis microcolon intestinal hypoperistalsis syndrome

• Megaduodenum and/or megacystis

• Megaepiphyseal dwarfism

• Megalencephalic leukoencephalopathy with subcortical cysts

• Megalencephaly-capillary malformation syndrome

• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

• Megaloblastic anemia due to dihydrofolate reductase deficiency

• Megalocornea - spherophakia - secondary glaucoma

• Megalocornea-intellectual disability syndrome

• Megarbane Jalkh syndrome

• Megarbane syndrome

• Mehes syndrome

• Mehta Lewis Patton syndrome

• Meier-Gorlin syndrome

• Meige syndrome

• Meleda disease

• Melnick-Needles syndrome

• Melorheostosis

• Melorheostosis with osteopoikilosis

• Meningocele

• Menkes disease

• Mental retardation skeletal dysplasia abducens palsy

• Mental retardation Smith Fineman Myers type

• Mental retardation X-linked syndromic 7

• Mental retardation, keratoconus, febrile seizures, and sinoatrial block

• Mental retardation, X-linked 14

• Mesomelia-synostoses syndrome

• Mesomelic dwarfism cleft palate camptodactyly

• Mesomelic dwarfism of hypoplastic tibia and radius type

• Mesomelic dysplasia Kantaputra type

• Mesomelic dysplasia Savarirayan type

• Metacarpals 4 and 5 fusion

• Metachondromatosis

• Metaphyseal acroscyphodysplasia

• Metaphyseal chondrodysplasia Schmid type

• Metaphyseal chondrodysplasia Spahr type

• Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

• Metaphyseal dysplasia maxillary hypoplasia brachydactyly

• Metaphyseal dysplasia without hypotrichosis

• Metaphyseal undermodeling, spondylar dysplasia, and overgrowth

• Metatropic dysplasia

• Methemoglobinemia, beta-globin type

• Methimazole antenatal exposure

• Methionine adenosyltransferase deficiency

• Methylcobalamin deficiency cbl G type

• Methylmalonic acidemia and homocysteinemia type cblX - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblC - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblD - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblF - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblJ - See Methylmalonic acidemia with homocystinuria

• Methylmalonic aciduria, cblA type - See Adenosylcobalamin deficiency

• Methylmalonic aciduria, cblB type - See Adenosylcobalamin deficiency

• Mevalonic aciduria

• MGAT2-CDG (CDG-IIa)

• Micro syndrome

• Microbrachycephaly ptosis cleft lip

• Microcephalic osteodysplastic primordial dwarfism type 1

• Microcephalic osteodysplastic primordial dwarfism type 2

• Microcephalic primordial dwarfism Toriello type

• Microcephalic primordial dwarfism, Montreal type

• Microcephaly autosomal dominant

• Microcephaly brain defect spasticity hypernatremia

• Microcephaly cervical spine fusion anomalies

• Microcephaly deafness syndrome

• Microcephaly glomerulonephritis Marfanoid habitus

• Microcephaly microcornea syndrome Seemanova type

• Microcephaly micropenis convulsions

• Microcephaly microphthalmos blindness

• Microcephaly nonsyndromal

• Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy

• Microcephaly-albinism-digital anomalies syndrome

• Microcephaly-cardiomyopathy

• Microcystic lymphatic malformation

• Microduplication Xp11.22-p11.23 syndrome

• Microgastria limb reduction defect

• Microhydranencephaly

• Microphthalmia associated with colobomatous cyst

• Microphthalmia syndromic 10

• Microphthalmia syndromic 4

• Microphthalmia syndromic 5

• Microphthalmia syndromic 6

• Microphthalmia syndromic 8

• Microphthalmia syndromic 9

• Microphthalmia with linear skin defects syndrome

• Microsomia hemifacial radial defects

• Microtia eye coloboma and imperforation of the nasolacrimal duct

• Microtia, meatal atresia and conductive deafness

• Microtia-Anotia

• Microvillus inclusion disease

• Midphalangeal hair

• Mild phenylketonuria

• Miller syndrome

• Miller-Dieker syndrome

• Milner Khallouf Gibson syndrome

• Milroy disease

• Minicore myopathy with external ophthalmoplegia

• Minicore myopathy, antenatal onset, with arthrogryposis

• Mitochondrial complex I deficiency

• Mitochondrial complex II deficiency

• Mitochondrial complex III deficiency

• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

• Mitochondrial DNA-associated Leigh syndrome

• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

• Mitochondrial genetic disorders

• Mitochondrial Membrane Protein-Associated Neurodegeneration

• Mitochondrial myopathy and sideroblastic anemia

• Mitochondrial myopathy with diabetes

• Mitochondrial myopathy with lactic acidosis

• Mitochondrial neurogastrointestinal encephalopathy syndrome

• Mitochondrial trifunctional protein deficiency

• Mitral atresia

• Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

• Mitral valve prolapse, familial, autosomal dominant

• Miyoshi myopathy

• Moebius syndrome

• MOGS-CDG (CDG-IIb)

• Mohr-Tranebjaerg syndrome

• Moloney syndrome

• Molybdenum cofactor deficiency

• MOMO syndrome

• Monilethrix

• Monoamine oxidase A deficiency

• Morgagni-Stewart-Morel syndrome

• MORM syndrome

• Morning glory syndrome

• Morse-Rawnsley-Sargent syndrome

• Mosaic trisomy 14

• Mosaic trisomy 22

• Mosaic trisomy 8

• Mosaic trisomy 9

• Mosaic variegated aneuploidy syndrome

• Mounier-Kuhn syndrome

• Mousa Al din Al Nassar syndrome

• Mowat-Wilson syndrome

• Moyamoya disease

• MPDU1-CDG (CDG-If)

• MPI-CDG (CDG-Ib)

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

• Muckle-Wells syndrome

• Mucolipidosis III alpha/beta

• Mucolipidosis type 4

• Mucopolysaccharidosis type III

• Mucopolysaccharidosis type IIIA

• Mucopolysaccharidosis type IIIB

• Mucopolysaccharidosis type IIIC

• Mucopolysaccharidosis type IIID

• Mucopolysaccharidosis type IV

• Mucopolysaccharidosis type IVA

• Mucopolysaccharidosis type VII

• Muenke Syndrome

• Muir-Torre syndrome

• Mulibrey Nanism

• Muller Barth Menger syndrome

• Multicentric carpotarsal osteolysis syndrome

• Multicystic renal dysplasia, bilateral

• Multiple café-au-lait spots

• Multiple congenital anomalies-hypotonia-seizures syndrome

• Multiple congenital anomalies-hypotonia-seizures syndrome type 2

• Multiple endocrine neoplasia type 1

• Multiple endocrine neoplasia type 2A

• Multiple endocrine neoplasia type 2B

• Multiple epiphyseal dysplasia 1

• Multiple epiphyseal dysplasia 2

• Multiple epiphyseal dysplasia 3

• Multiple epiphyseal dysplasia 4

• Multiple epiphyseal dysplasia 5

• Multiple familial trichoepithelioma

• Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma

• Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma

• Multiple fibrofolliculoma familial

• Multiple pterygium syndrome Escobar type

• Multiple pterygium syndrome lethal type

• Multiple pterygium syndrome X-linked

• Multiple sulfatase deficiency

• Multiple symmetric lipomatosis

• Multiple synostoses syndrome 1

• Multiple synostoses syndrome 2

• Multiple system atrophy

• Multisystemic smooth muscle dysfunction syndrome

• Mungan syndrome

• MURCS association

• Muscle eye brain disease

• Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus

• Muscular dystrophy white matter spongiosis

• Muscular dystrophy, congenital, megaconial type

• Muscular phosphorylase kinase deficiency

• Musculocontractural Ehlers-Danlos syndrome

• MYD88 deficiency

• Myelocerebellar disorder

• MYH7-related scapuloperoneal myopathy

• Myhre syndrome

• Myoclonic epilepsy with ragged red fibers

• Myoclonus cerebellar ataxia deafness

• Myoclonus-dystonia

• Myoglobinuria recurrent

• Myokymia with neonatal epilepsy

• Myopathic carnitine deficiency

• Myopathy with extrapyramidal signs

• Myosin storage myopathy

• Myotonia congenita

• Myotonic dystrophy type 1

• Myotonic dystrophy type 2

• N syndrome

• N-acetylglutamate synthase deficiency

• Nablus mask-like facial syndrome

• Naegeli syndrome

• Nager acrofacial dysostosis

• Naguib-Richieri-Costa syndrome

• Nail dysplasia, isolated congenital

• Nail-patella syndrome

• Nakajo Nishimura syndrome

• Nakajo syndrome

• Nance-Horan syndrome

• Nasodigitoacoustic syndrome

• Nathalie syndrome

• Naxos disease

• NBIA/DYT/PARK-PLA2G6

• Neonatal adrenoleukodystrophy

• Neonatal hemochromatosis

• Neonatal intrahepatic cholestasis caused by citrin deficiency

• Neonatal Onset Multisystem Inflammatory disease

• Neonatal progeroid syndrome

• Neonatal severe hyperparathyroidism

• Nephrogenic diabetes insipidus

• Nephropathy, deafness, and hyperparathyroidism

• Nestor-guillermo progeria syndrome

• Netherton syndrome

• Neu Laxova syndrome

• Neural tube defects - Not a rare disease

• Neurofaciodigitorenal syndrome

• Neuroferritinopathy

• Neurofibromatosis type 2

• Neurofibromatosis-Noonan syndrome

• Neuronal ceroid lipofuscinosis 10

• Neuronal ceroid lipofuscinosis 2

• Neuronal ceroid lipofuscinosis 3

• Neuronal ceroid lipofuscinosis 5

• Neuronal ceroid lipofuscinosis 6

• Neuronal ceroid lipofuscinosis 7

• Neuronal ceroid lipofuscinosis 9

• Neuronal intranuclear inclusion disease

• Neuropathy ataxia retinitis pigmentosa syndrome

• Neuropathy, congenital, with arthrogryposis multiplex

• Neuropathy, distal hereditary motor, Jerash type

• Neuropathy, hereditary motor and sensory, Okinawa type

• Neuropathy, hereditary motor and sensory, Russe type

• Neutral lipid storage disease with myopathy

• Neutrophil-specific granule deficiency

• Nevoid basal cell carcinoma syndrome

• Nevus comedonicus syndrome

• Nguyen syndrome

• Nicolaides-Baraitser syndrome

• Niemann-Pick disease type A

• Niemann-Pick disease type B

• Niemann-Pick disease type C1

• Niemann-Pick disease type C2

• Nievergelt syndrome

• Night blindness-skeletal anomalies-dysmorphism syndrome

• Nijmegen breakage syndrome

• Non-involuting congenital hemangioma

• Nonbullous congenital ichthyosiform erythroderma

• Nonspherocytic hemolytic anemia due to hexokinase deficiency

• Nonsyndromic hereditary sensorineural hearing loss

• Noonan syndrome

• Noonan syndrome 1 - See Noonan syndrome

• Noonan syndrome 2 - See Noonan syndrome

• Noonan syndrome 3 - See Noonan syndrome

• Noonan syndrome 4 - See Noonan syndrome

• Noonan syndrome 5 - See Noonan syndrome

• Noonan syndrome 6 - See Noonan syndrome

• Noonan-like syndrome with loose anagen hair

• Norrie disease

• North Carolina macular dystrophy

• Northern epilepsy

• Not otherwise specified 3-MGA-uria type

• Obesity due to congenital leptin deficiency

• Occipital horn syndrome

• Ochoa syndrome

• Ocular albinism type 1

• Oculo skeletal renal syndrome

• Oculoauriculofrontonasal syndrome

• Oculocerebral syndrome with hypopigmentation

• Oculocerebrocutaneous syndrome

• Oculocutaneous albinism type 1

• Oculocutaneous albinism type 1B

• Oculocutaneous albinism type 2

• Oculocutaneous albinism type 3

• Oculodentodigital dysplasia

• Oculoectodermal syndrome

• Oculofaciocardiodental syndrome

• Oculomaxillofacial dysostosis

• Oculomotor apraxia Cogan type

• Oculopharyngeal muscular dystrophy

• Oculopharyngodistal myopathy

• Oculorenocerebellar syndrome

• Odonto onycho dysplasia with alopecia

• Odontoma dysphagia syndrome

• Odontomicronychial dysplasia

• Odontoonychodermal dysplasia

• Odontotrichomelic syndrome

• Oguchi disease

• Okamoto syndrome

• Oligodactyly tetramelic postaxial

• Oligomeganephronic renal hypoplasia

• Oliver syndrome

• Olivopontocerebellar atrophy deafness

• Ollier disease

• Olmsted syndrome

• Omenn syndrome

• Omodysplasia 1

• Omodysplasia 2

• Omphalocele cleft palate syndrome lethal

• Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

• Omphalomesenteric cyst

• Onychodystrophy-anonychia

• Onychotrichodysplasia and neutropenia

• OPA3 defect

• OPHN1 syndrome

• Opsismodysplasia

• Optic atrophy 1

• Optic atrophy 2

• Optic atrophy polyneuropathy deafness

• Ornithine transcarbamylase deficiency

• Ornithine translocase deficiency syndrome

• Orofaciodigital syndrome 1

• Orofaciodigital syndrome 10

• Orofaciodigital syndrome 11

• Orofaciodigital syndrome 12

• Orofaciodigital syndrome 13

• Orofaciodigital syndrome 2

• Orofaciodigital syndrome 3

• Orofaciodigital syndrome 4

• Orofaciodigital syndrome 5

• Orofaciodigital syndrome 6

• Orofaciodigital syndrome 8

• Orofaciodigital syndrome 9

• Orofaciodigital syndromes

• Orotic aciduria type 1

• Orthostatic intolerance due to NET deficiency

• Oslam syndrome

• OSMED Syndrome

• Ossicular Malformations, familial

• Osteoarthropathy of fingers familial

• Osteodysplasia familial Anderson type

• Osteofibrous dysplasia

• Osteogenesis imperfecta

• Osteogenesis imperfecta type I

• Osteogenesis imperfecta type II

• Osteogenesis imperfecta type III

• Osteogenesis imperfecta type IV

• Osteogenesis imperfecta type IX

• Osteogenesis imperfecta type V

• Osteogenesis imperfecta type VI

• Osteogenesis imperfecta type VII

• Osteogenesis imperfecta type VIII

• Osteoglophonic dysplasia

• Osteomesopyknosis

• Osteopathia striata cranial sclerosis

• Osteopathia striata with pigmentary dermopathy including white forelock

• Osteopenia and sparse hair

• Osteopetrosis

• Osteopetrosis and infantile neuroaxonal dystrophy

• Osteopetrosis autosomal dominant type 1

• Osteopetrosis autosomal dominant type 2

• Osteopetrosis autosomal recessive 1

• Osteopetrosis autosomal recessive 2

• Osteopetrosis autosomal recessive 3

• Osteopetrosis autosomal recessive 4

• Osteopetrosis autosomal recessive 5

• Osteopetrosis autosomal recessive 6

• Osteopetrosis autosomal recessive 7

• Osteopoikilosis and dacryocystitis

• Osteoporosis oculocutaneous hypopigmentation syndrome

• Osteoporosis-pseudoglioma syndrome

• Ostium secundum atrial septal defect

• Oto-palato-digital syndrome type 1

• Oto-palato-digital syndrome type 2

• Otodental dysplasia

• Otofaciocervical syndrome

• Otoonychoperoneal syndrome

• Ouvrier Billson syndrome

• Overhydrated hereditary stomatocytosis

• Pachydermoperiostosis

• Pachygyria

• Pachygyria, frontotemporal

• Pachygyria-intellectual disability-epilepsy syndrome

• Pachyonychia congenita

• Pacman dysplasia

• PACS1-related syndrome

• PAGOD syndrome

• Pagon Stephan syndrome

• Paine syndrome

• Palant cleft palate syndrome

• Palatopharyngeal incompetence

• Pallidopyramidal syndrome

• Pallister W syndrome

• Pallister-Hall syndrome

• Pallister-Killian mosaic syndrome

• Palmer Pagon syndrome

• Palmoplantar keratoderma-sclerodactyly syndrome

• Pancreatic cancer

• Panhypopituitarism X-linked

• Panostotic fibrous dysplasia

• Papillary renal cell carcinoma

• Papillon Lefevre syndrome

• Paraganglioma and gastric stromal sarcoma

• Paramyotonia congenita

• Parastremmatic dwarfism

• PARC syndrome

• Paris-Trousseau thrombocytopenia

• Parkes Weber syndrome

• Parkinson disease type 9

• Paroxysmal exertion-induced dyskinesia

• Paroxysmal extreme pain disorder

• Paroxysmal kinesigenic choreoathetosis

• Paroxysmal nocturnal hemoglobinuria

• Paroxysmal ventricular fibrillation

• Paroxysomal nonkinesigenic dyskinesia

• Partial androgen insensitivity syndrome

• Partington syndrome

• PASLI disease

• Paternal uniparental disomy of chromosome 14

• Patterson-Stevenson-Fontaine syndrome

• PCDH19-related female-limited epilepsy

• Pearson syndrome

• Pectus carinatum

• PEHO syndrome

• Pelger-Huet anomaly

• Pelvic dysplasia arthrogryposis of lower limbs

• Pendred syndrome

• Pentalogy of Cantrell

• Pentosuria

• Periodic fever, aphthous stomatitis, pharyngitis and adenitis

• Periodontal Ehlers-Danlos syndrome

• Peripheral resistance to thyroid hormones

• Periventricular heterotopia

• Perlman syndrome

• Permanent neonatal diabetes mellitus

• Peroxisomal biogenesis disorders

• Perrault syndrome

• Perry syndrome

• Persistent Mullerian duct syndrome

• Peters plus syndrome

• Peutz-Jeghers syndrome

• Pfeiffer Mayer syndrome

• Pfeiffer Palm Teller syndrome

• Pfeiffer syndrome

• Pfeiffer Tietze Welte syndrome

• Pfeiffer-type cardiocranial syndrome

• PGM1-CDG

• PGM3-CDG

• PHACE syndrome

• PHAVER syndrome

• Phenobarbital antenatal exposure

• Pheochromocytoma

• Phocomelia ectrodactyly deafness sinus arrhythmia

• Phosphoglycerate kinase deficiency

• Phosphoglycerate mutase deficiency

• Phosphoserine aminotransferase deficiency

• Piebaldism

• Pierre Robin sequence

• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies

• Pierson syndrome

• Pili annulati

• Pili torti

• Pili torti developmental delay neurological abnormalities

• Pillay syndrome

• Pilodental dysplasia with refractive errors

• Pinheiro Freire-Maia Miranda syndrome

• Pitt-Hopkins syndrome

• Pitt-Hopkins-like syndrome

• Pituitary dwarfism with large sella turcica

• Pituitary hormone deficiency, combined 3

• Pituitary hormone deficiency, combined 4

• Pituitary stalk interruption syndrome

• Pityriasis rubra pilaris

• Plagiocephaly

• Plasminogen activator inhibitor type 1 deficiency

• Platyspondylic lethal skeletal dysplasia Torrance type

• PMM2-CDG (CDG-Ia)

• Poikiloderma with neutropenia

• Poland syndrome

• POLR3-Related Leukodystrophy

• Polycystic kidney disease - Not a rare disease

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

• Polycystic liver disease

• Polydactyly

• Polydactyly myopia syndrome

• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

• Polyosteolysis/hyperostosis syndrome

• Polyostotic osteolytic dysplasia, hereditary expansile

• Polysyndactyly cardiac malformation

• Pontine tegmental cap dysplasia

• Pontocerebellar hypoplasia type 1

• Pontocerebellar hypoplasia type 2

• Pontocerebellar hypoplasia type 3

• Pontocerebellar hypoplasia type 4

• Pontocerebellar hypoplasia type 5

• Pontocerebellar hypoplasia type 6

• Popliteal pterygium syndrome

• Popliteal pterygium syndrome, Bartsocas-Papas type

• Porokeratosis of Mibelli

• Porokeratosis, disseminated superficial actinic 2

• Porphyria cutanea tarda

• Posterior column ataxia with retinitis pigmentosa

• Postnatal progressive microcephaly, seizures, and brain atrophy

• Potassium aggravated myotonia

• Potato nose

• Potocki-Lupski syndrome

• Potocki-Shaffer syndrome

• Potter sequence

• PPM-X syndrome

• Prader-Willi habitus, osteopenia, and camptodactyly

• Prader-Willi syndrome

• Preaxial deficiency, postaxial polydactyly and hypospadias

• Preaxial polydactyly type 1

• Preaxial polydactyly type 2

• Preaxial polydactyly type 3

• Preaxial polydactyly type 4

• Prekallikrein deficiency, congenital

• Pretibial epidermolysis bullosa

• Primary angiitis of the central nervous system

• Primary basilar impression

• Primary carnitine deficiency

• Primary ciliary dyskinesia

• Primary familial and congenital polycythemia

• Primary Familial Brain Calcification

• Primary hyperoxaluria type 1

• Primary hyperoxaluria type 2

• Primary hypomagnesemia with secondary hypocalcemia

• Primary intestinal lymphangiectasia

• Primary lateral sclerosis

• Primary open angle glaucoma juvenile onset 1

• Primary pigmented nodular adrenocortical disease

• Primrose syndrome

• Progeria

• Progeroid short stature with pigmented nevi

• Progeroid syndrome Petty type

• Prognathism mandibular

• Progressive bifocal chorioretinal atrophy

• Progressive deafness with stapes fixation

• Progressive external ophthalmoplegia, autosomal recessive 1

• Progressive familial heart block type 1A

• Progressive familial heart block type 1B

• Progressive familial heart block type 2

• Progressive familial intrahepatic cholestasis 1

• Progressive familial intrahepatic cholestasis type 2

• Progressive familial intrahepatic cholestasis type 3

• Progressive non-fluent aphasia

• Progressive osseous heteroplasia

• Progressive pseudorheumatoid dysplasia

• Prolidase deficiency

• Proopiomelanocortin deficiency

• Propionic acidemia

• Protein C deficiency - Not a rare disease

• Proteus syndrome

• Proteus-like syndrome

• Prothrombin deficiency

• Proud syndrome

• Proximal chromosome 18q deletion syndrome

• Proximal symphalangism

• Prune belly syndrome

• Pseudo Pelger-Huet anomaly

• Pseudo-Von Willebrand disease

• Pseudoachondroplasia

• Pseudoaminopterin syndrome

• Pseudocholinesterase deficiency

• Pseudodiastrophic dysplasia

• Pseudohypoaldosteronism type 2

• Pseudohypoparathyroidism type 1A

• Pseudohypoparathyroidism type 1B

• Pseudohypoparathyroidism type 1C

• Pseudohypoparathyroidism type 2

• Pseudoneonatal adrenoleukodystrophy

• Pseudoprogeria syndrome

• Pseudopseudohypoparathyroidism

• Pseudotrisomy 13 syndrome

• Pseudoxanthoma elasticum

• Pseudoxanthoma elasticum, forme fruste

• Pterygium colli mental retardation digital anomalies

• Ptosis strabismus ectopic pupils

• Pulmonary alveolar microlithiasis

• Pulmonary arterio-veinous fistula

• Pulmonary atresia with intact ventricular septum

• Pulmonary atresia with ventricular septal defect

• Pulmonary vein stenosis

• Pulmonary venoocclusive disease

• Punctate palmoplantar keratoderma type 2

• Punctate palmoplantar keratoderma type I

• Purine nucleoside phosphorylase deficiency

• Pustulosis palmaris et plantaris

• Pycnodysostosis

• Pyknoachondrogenesis

• Pyle disease

• Pyogenic arthritis, pyoderma gangrenosum and acne

• Pyramidal molars-abnormal upper lip syndrome

• Pyridoxal 5'-phosphate-dependent epilepsy

• Pyridoxine-dependent epilepsy

• Pyropoikilocytosis hereditary

• Pyruvate dehydrogenase phosphatase deficiency

• Pyruvate kinase deficiency

• Qazi Markouizos syndrome

• Quebec platelet disorder

• Rabson-Mendenhall syndrome

• Radial defect Robin sequence

• Radial ray agenesis

• Radial ray hypoplasia choanal atresia

• Radio renal syndrome

• Radioulnar synostosis-microcephaly-scoliosis syndrome

• Radius absent anogenital anomalies

• Raine syndrome

• Ramon Syndrome

• Ramos Arroyo Clark syndrome

• Rapadilino syndrome

• Rapid-onset dystonia-parkinsonism

• Rasmussen Johnsen Thomsen syndrome

• Reardon Wilson Cavanagh syndrome

• Recessive dystrophic epidermolysis bullosa-generalized other

• Recombinant chromosome 8 syndrome

• Reducing body myopathy

• Refsum disease

• Refsum disease, infantile form

• Renal agenesis

• Renal coloboma syndrome

• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

• Renal dysplasia-limb defects syndrome

• Renal glycosuria

• Renal hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal hypouricemia

• Renal tubular acidosis with deafness

• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

• Renier Gabreels Jasper syndrome

• Renpenning syndrome

• Reticular dysgenesis

• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

• Retinal cone dystrophy 1

• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

• Retinal vasculopathy with cerebral leukodystrophy

• Retinitis pigmentosa

• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

• Retinopathy pigmentary mental retardation

• Rett syndrome

• Revesz syndrome

• RFT1-CDG (CDG-In)

• Rh deficiency syndrome

• Rhizomelic chondrodysplasia punctata type 1

• Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata

• Rhizomelic dysplasia Patterson Lowry type

• Rhizomelic syndrome

• RHYNS syndrome

• Riboflavin transporter deficiency

• Richards-Rundle syndrome

• Richieri Costa Da Silva syndrome

• Richieri Costa Pereira syndrome

• Right ventricle hypoplasia

• Rigid spine syndrome

• Ring chromosome 1

• Ring chromosome 10

• Ring chromosome 12

• Ring chromosome 13

• Ring chromosome 14

• Ring chromosome 15

• Ring chromosome 16

• Ring chromosome 17

• Ring chromosome 18

• Ring chromosome 20

• Ring chromosome 21

• Ring chromosome 22

• Ring chromosome 4

• Ring chromosome 6

• Ring chromosome 7

• Ring chromosome 8

• Ring chromosome 9

• Rippling muscle disease

• RNAse T2-deficient leukoencephalopathy

• Roberts syndrome

• Robinow syndrome

• Roch-Leri mesosomatous lipomatosis

• Rodrigues blindness

• Roifman syndrome

• Rokitansky sequence

• Rokitansky-Aschoff sinuses of the gallbladder

• Rombo syndrome

• Rommen Mueller Sybert syndrome

• Rothmund-Thomson syndrome

• Rotor syndrome

• Roussy Levy syndrome

• Rozin Hertz Goodman syndrome

• RRM2B-related mitochondrial DNA depletion syndrome

• Rud Syndrome

• Russell-Silver syndrome

• Rutherfurd syndrome

• Ruvalcaba syndrome

• Ruzicka Goerz Anton syndrome

• Sabinas brittle hair syndrome - See Trichothiodystrophy

• Saccharopinuria

• Sacral hemangiomas multiple congenital abnormalities

• Sacral meningocele conotruncal heart defects

• Saethre-Chotzen syndrome

• Saito Kuba Tsuruta syndrome

• Sakoda complex

• Salcedo syndrome

• Salla disease - See Free sialic acid storage disease

• Sarcosinemia

• Satoyoshi syndrome

• Saul Wilkes Stevenson syndrome

• Say Barber Miller syndrome

• Say Meyer syndrome

• Say syndrome

• Say-Field-Coldwell syndrome

• Scalp defects postaxial polydactyly

• Scalp ear nipple syndrome

• Scapuloperoneal syndrome, neurogenic, Kaeser type

• SCARF syndrome

• Schaaf-Yang syndrome

• Schaap Taylor Baraitser syndrome

• Schaefer Stein Oshman syndrome

• Scheie syndrome

• Scheuermann disease

• Schimke immunoosseous dysplasia

• Schindler disease type 1

• Schinzel Giedion syndrome

• Schinzel type phocomelia

• Schisis association

• Schizencephaly

• Schneckenbecken dysplasia

• Scholte syndrome

• Schrander-Stumpel Theunissen Hulsmans syndrome

• Schwannomatosis

• Schwartz Jampel syndrome

• Sclerosteosis

• SCOT deficiency

• Scott Bryant Graham syndrome

• Scott syndrome

• Sea-Blue histiocytosis

• Seaver Cassidy syndrome

• Sebaceous gland hyperplasia, familial presenile

• Seckel like syndrome Majoor-Krakauer type

• Seckel syndrome

• Segmentation syndrome 1

• Selective IgM deficiency

• Semantic dementia

• Sengers syndrome

• Senior Loken Syndrome

• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

• Sepiapterin reductase deficiency

• Septo-optic dysplasia spectrum

• Seres-Santamaria Arimany Muniz syndrome

• SERKAL syndrome

• SeSAME syndrome

• SETBP1 disorder

• Severe achondroplasia with developmental delay and acanthosis nigricans

• Severe combined immunodeficiency

• Severe combined immunodeficiency due to complete RAG1/2 deficiency

• Severe congenital nemaline myopathy

• Severe congenital neutropenia autosomal recessive 3

• Severe congenital neutropenia X-linked

• Severe generalized recessive dystrophic epidermolysis bullosa

• Severe intellectual disability-progressive spastic diplegia syndrome

• Severe X-linked intellectual disability, Gustavson type

• Sheldon-Hall syndrome

• Short rib-polydactyly syndrome type 3

• Short rib-polydactyly syndrome type 1

• Short rib-polydactyly syndrome type 4

• Short rib-polydactyly syndrome, Majewski type

• Short stature deafness neutrophil dysfunction

• Short stature syndrome, Brussels type

• Short stature wormian bones dextrocardia

• Short stature-craniofacial anomalies-genital hypoplasia syndrome

• SHORT syndrome

• Short-chain acyl-CoA dehydrogenase deficiency

• Short-limb skeletal dysplasia with severe combined immunodeficiency

• Shoulder girdle defect mental retardation familial

• Shprintzen omphalocele syndrome

• Shprintzen-Goldberg craniosynostosis syndrome

• Shwachman-Diamond syndrome

• Sialidosis type I

• Sialidosis, type II

• Sialuria, French type

• Sickle beta thalassemia

• Sickle cell - hemoglobin D disease

• Sickle cell anemia

• Siegler Brewer Carey syndrome

• Silengo Lerone Pelizza syndrome

• Sillence syndrome

• Simosa cranio facial syndrome

• Simpson-Golabi-Behmel syndrome

• Single upper central incisor

• Singleton-Merten syndrome

• Sirenomelia

• Sitosterolemia

• Situs inversus

• Situs inversus totalis with cystic dysplasia of kidneys and pancreas

• Sjogren-Larsson syndrome

• Skeletal dysplasia, San Diego type

• Skeletal dysplasias - Not a rare disease

• Skin fragility-woolly hair-palmoplantar keratoderma syndrome

• SLC35A1-CDG (CDG-IIf)

• SLC35A2-CDG

• SLC35C1-CDG (CDG-IIc)

• Slow-channel congenital myasthenic syndrome

• Small patella syndrome

• Smith McCort dysplasia

• Smith-Lemli-Opitz syndrome

• Smith-Magenis syndrome

• Sneddon syndrome

• Snowflake vitreoretinal degeneration

• Snyder-Robinson syndrome

• Sonoda syndrome

• Sotos syndrome

• Spasmodic dysphonia

• Spastic ataxia Charlevoix-Saguenay type

• Spastic paraplegia 1

• Spastic paraplegia 10

• Spastic paraplegia 11

• Spastic paraplegia 12

• Spastic paraplegia 13

• Spastic paraplegia 14

• Spastic paraplegia 15

• Spastic paraplegia 16

• Spastic paraplegia 17

• Spastic paraplegia 18

• Spastic paraplegia 19

• Spastic paraplegia 2

• Spastic paraplegia 23

• Spastic paraplegia 24

• Spastic paraplegia 25

• Spastic paraplegia 26

• Spastic paraplegia 29

• Spastic paraplegia 3

• Spastic paraplegia 31

• Spastic paraplegia 32

• Spastic paraplegia 4

• Spastic paraplegia 51

• Spastic paraplegia 5A

• Spastic paraplegia 6

• Spastic paraplegia 7

• Spastic paraplegia 8

• Spastic paraplegia 9

• Spastic paraplegia facial cutaneous lesions

• Spastic paraplegia-epilepsy-intellectual disability syndrome

• Spastic paraplegia-glaucoma-intellectual disability syndrome

• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

• Specific antibody deficiency

• Spina bifida

• Spinal atrophy ophthalmoplegia pyramidal syndrome

• Spinal muscular atrophy 1

• Spinal muscular atrophy type 2

• Spinal muscular atrophy type 3

• Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

• Spinocerebellar ataxia 1

• Spinocerebellar ataxia 10

• Spinocerebellar ataxia 11

• Spinocerebellar ataxia 12

• Spinocerebellar ataxia 13

• Spinocerebellar ataxia 14

• Spinocerebellar ataxia 15

• Spinocerebellar ataxia 17

• Spinocerebellar ataxia 18

• Spinocerebellar ataxia 19 and 22

• Spinocerebellar ataxia 2

• Spinocerebellar ataxia 20

• Spinocerebellar ataxia 21

• Spinocerebellar ataxia 23

• Spinocerebellar ataxia 25

• Spinocerebellar ataxia 26

• Spinocerebellar ataxia 27

• Spinocerebellar ataxia 28

• Spinocerebellar ataxia 29

• Spinocerebellar ataxia 31

• Spinocerebellar ataxia 34

• Spinocerebellar ataxia 4

• Spinocerebellar ataxia 5

• Spinocerebellar ataxia 7

• Spinocerebellar ataxia 8

• Spinocerebellar ataxia autosomal recessive 3

• Spinocerebellar ataxia autosomal recessive 4

• Spinocerebellar ataxia autosomal recessive 5

• Spinocerebellar ataxia autosomal recessive 7

• Spinocerebellar ataxia autosomal recessive 8

• Spinocerebellar ataxia autosomal recessive with axonal neuropathy

• Spinocerebellar ataxia type 6

• Spinocerebellar ataxia with dysmorphism

• Spinocerebellar ataxia X-linked type 3

• Spinocerebellar ataxia X-linked type 4

• Spinocerebellar degeneration and corneal dystrophy

• Splenogonadal fusion limb defects micrognatia

• Split hand foot malformation

• Split hand split foot nystagmus

• Split hand urinary anomalies spina bifida

• Split spinal cord malformation

• Spondylocamptodactyly

• Spondylocarpotarsal synostosis syndrome

• Spondylocostal dysostosis 1 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 2 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 3 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 4 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 5 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 6 - See Spondylocostal dysostosis

• Spondylodysplastic Ehlers-Danlos syndrome

• Spondyloenchondrodysplasia

• Spondyloepimetaphyseal dysplasia Genevieve type

• Spondyloepimetaphyseal dysplasia joint laxity

• Spondyloepimetaphyseal dysplasia Matrilin-3 related

• Spondyloepimetaphyseal dysplasia micromelic

• Spondyloepimetaphyseal dysplasia Missouri type

• Spondyloepimetaphyseal dysplasia Shohat type

• Spondyloepimetaphyseal dysplasia Sponastrime type

• Spondyloepimetaphyseal dysplasia Strudwick type

• Spondyloepimetaphyseal dysplasia with hypotrichosis

• Spondyloepimetaphyseal dysplasia with multiple dislocations

• Spondyloepimetaphyseal dysplasia X-linked

• Spondyloepimetaphyseal dysplasia, Aggrecan type

• Spondyloepiphyseal dysplasia congenita

• Spondyloepiphyseal dysplasia Maroteaux type

• Spondyloepiphyseal dysplasia tarda X-linked

• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

• Spondylometaepiphyseal dysplasia short limb-hand type

• Spondylometaphyseal dysplasia Algerian type

• Spondylometaphyseal dysplasia corner fracture type

• Spondylometaphyseal dysplasia East-African type

• Spondylometaphyseal dysplasia Sedaghatian type

• Spondylometaphyseal dysplasia type A4

• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

• Spondylometaphyseal dysplasia with cone-rod dystrophy

• Spondylometaphyseal dysplasia with dentinogenesis imperfecta

• Spondylometaphyseal dysplasia X-linked

• Spondylometaphyseal dysplasia, Kozlowski type

• Spondyloperipheral dysplasia

• Spondylospinal thoracic dysostosis

• Spondylothoracic dysostosis

• Sprengel deformity

• SRD5A3-CDG (CDG-Iq)

• SSR4-CDG

• STAC3 Disorder

• Stalker Chitayat syndrome

• STAR syndrome

• Stargardt disease

• Steatocystoma multiplex

• Steatocystoma multiplex with natal teeth

• Steinfeld syndrome

• Sternal cleft

• Stickler syndrome

• Stiff person syndrome

• Stiff skin syndrome

• Stocco dos Santos syndrome

• Stoll Alembik Finck syndrome

• Striatonigral degeneration infantile

• Sturge-Weber syndrome

• Stuve-Wiedemann syndrome

• Subaortic stenosis short stature syndrome

• Subcortical band heterotopia

• Succinic semialdehyde dehydrogenase deficiency

• Sudden infant death with dysgenesis of the testes syndrome

• Sugarman brachydactyly

• Supernumerary nipple - Not a rare disease

• Supraumbilical midabdominal raphe and facial cavernous hemangiomas

• Supravalvular aortic stenosis

• Swyer syndrome

• Symphalangism with multiple anomalies of hands and feet

• Syndactyly Cenani Lenz type

• Syndactyly type 1

• Syndactyly type 3

• Syndactyly type 5

• Syndactyly type 9

• Syndactyly-polydactyly-earlobe syndrome

• Syndromic microphthalmia, type 3

• Syngnathia cleft palate

• Syngnathia multiple anomalies

• Synovial chondromatosis, familial with dwarfism

• Syringomyelia

• T-cell immunodeficiency, congenital alopecia and nail dystrophy

• Tabatznik syndrome

• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals

• Talonavicular coalition

• Tangier disease

• TANGO2-Related Metabolic Encephalopathy and Arrhythmias

• TAR syndrome

• Tardive dyskinesia - Not a rare disease

• TARP syndrome

• Tarsal carpal coalition syndrome

• Taurodontia, absent teeth, sparse hair syndrome

• Taurodontism

• Taurodontism, microdontia, and dens invaginatus

• Teebi Shaltout syndrome

• Tel Hashomer camptodactyly syndrome

• Telfer Sugar Jaeger syndrome

• Temple syndrome

• Temple-Baraitser syndrome

• Temporal epilepsy, familial

• Temtamy preaxial brachydactyly syndrome

• Temtamy syndrome

• Tendons, extensor, of fingers, anomalous insertion of

• Testotoxicosis

• Tethered cord syndrome

• Tetra-amelia syndrome

• Tetraamelia with pulmonary hypoplasia

• Tetraamelia-multiple malformations syndrome

• Tetralogy of Fallot

• Tetralogy of fallot and glaucoma

• Tetramelic monodactyly

• Tetraploidy

• Tetrasomy 21

• Tetrasomy 9p

• Tetrasomy X

• Thai symphalangism syndrome

• Thakker-Donnai syndrome

• Thanatophoric dysplasia type 1

• Thanatophoric dysplasia type 2

• Thiamine responsive megaloblastic anemia syndrome

• Thiopurine S methyltranferase deficiency

• Thomas syndrome

• Thoracic dysplasia hydrocephalus syndrome

• Thoraco abdominal enteric duplication

• Thoracolaryngopelvic dysplasia

• Thrombocytopathy asplenia miosis

• Thumb deformity

• Thumb deformity, alopecia, pigmentation anomaly

• Thumb stiff brachydactyly mental retardation

• Thymic-Renal-Anal-Lung dysplasia

• Thyroid dysgenesis

• Tibia absent polydactyly arachnoid cyst

• Tietz syndrome

• Tight skin contracture syndrome, lethal

• Timothy syndrome

• TMEM165-CDG (CDG-IIk)

• Tollner Horst Manzke syndrome

• Tolosa Hunt syndrome

• Tonoki syndrome

• Toriello-Carey syndrome

• Torticollis keloids cryptorchidism renal dysplasia

• Total Hypotrichosis, Mari type

• Townes-Brocks syndrome

• Tracheal agenesis

• Tranebjaerg Svejgaard syndrome

• Transaldolase deficiency

• Transient bullous dermolysis of the newborn

• Transient infantile liver failure

• Transient neonatal diabetes mellitus

• Treacher Collins syndrome

• Treacher Collins syndrome 3

• Tricho-dento-osseous syndrome

• Trichodental syndrome

• Trichohepatoenteric syndrome

• Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina

• Trichorhinophalangeal syndrome type 1

• Trichorhinophalangeal syndrome type 2

• Trichorhinophalangeal syndrome type 3

• Trichothiodystrophy

• Tricuspid atresia

• Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet

• Trigonocephaly bifid nose acral anomalies

• Triosephosphate isomerase deficiency

• Triphalangeal thumbs brachyectrodactyly

• Triple A syndrome

• Triploidy

• Trismus-pseudocamptodactyly syndrome

• Trisomy 13

• Trisomy 17 mosaicism

• Trisomy 18

• Trisomy 2 mosaicism

• Trisomy 3 mosaicism

• Troyer syndrome

• Tryptophanuria with dwarfism

• Tuberous sclerosis complex

• Tubular aggregate myopathy

• Tucker syndrome

• Tufted angioma

• Tufting enteropathy

• Tukel syndrome

• Tumor necrosis factor receptor-associated periodic syndrome

• Twenty-nail dystrophy

• Tylosis with esophageal cancer

• Type 1 plasminogen deficiency

• Typical congenital nemaline myopathy

• Tyrosine hydroxylase deficiency

• Tyrosine-oxidase temporary deficiency

• Tyrosinemia type 1

• Tyrosinemia type 2

• Tyrosinemia type 3

• Ulerythema ophryogenesis

• Ullrich congenital muscular dystrophy

• Ulna and fibula, hypoplasia of

• Ulna hypoplasia-intellectual disability syndrome

• Ulna metaphyseal dysplasia syndrome

• Ulnar hypoplasia lobster claw deformity of feet

• Ulnar-mammary syndrome

• Uncombable hair syndrome

• Unverricht-Lundborg disease

• Upington disease

• Urachal cyst

• Urogenital adysplasia

• Usher syndrome type 2A

• Usher syndrome, type 1

• UV sensitive syndrome

• VACTERL association

• VACTERL association with hydrocephaly, X-linked

• VACTERL hydrocephaly

• Vagina, absence of

• Vagneur Triolle Ripert syndrome

• Van Benthem-Driessen-Hanveld syndrome

• Van Buchem disease type 2

• Van Den Bosch syndrome

• Van der Woude syndrome

• Van der Woude syndrome 2

• Variegate porphyria

• Vascular Ehlers-Danlos syndrome

• Vascular hyalinosis

• Vein of Galen aneurysm

• Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence

• Verloes Bourguignon syndrome

• Verloes Van Maldergem Marneffe syndrome

• Verloove Vanhorick Brubakk syndrome

• Vibratory urticaria

• Vici syndrome

• Viljoen Kallis Voges syndrome

• VLCAD deficiency

• Vocal cord dysfunction familial

• Vohwinkel syndrome

• Von Hippel-Lindau disease

• Waardenburg syndrome type 1

• Waardenburg syndrome type 2

• Waardenburg syndrome type 3

• Waardenburg syndrome type 4

• Wagner syndrome

• WAGR syndrome

• Walker-Warburg syndrome

• Warfarin syndrome

• Warman Mulliken Hayward syndrome

• Weaver syndrome

• Weill-Marchesani syndrome

• Weissenbacher-Zweymuller syndrome

• Welander distal myopathy, Swedish type

• Wells-Jankovic syndrome

• Werner syndrome

• West syndrome

• Weyers acrofacial dysostosis

• Weyers ulnar ray/oligodactyly syndrome

• WHIM syndrome

• Whistling face syndrome, recessive form

• White forelock with malformations

• White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

• White sponge nevus of cannon

• Wiedemann Oldigs Oppermann syndrome

• Wildervanck syndrome

• Williams syndrome

• Wilms' tumor

• Wilson disease

• Wilson-Turner syndrome

• Winchester syndrome

• Wiskott Aldrich syndrome

• Witkop syndrome

• Wolf-Hirschhorn syndrome

• Wolff-Parkinson-White syndrome - Not a rare disease

• Wolfram syndrome

• Wolman disease

• Woodhouse Sakati syndrome

• Woods Black Norbury syndrome

• Woolly hair hypotrichosis everted lower lip and outstanding ears

• Woolly hair syndrome

• Worth type autosomal dominant osteosclerosis

• Wrinkly skin syndrome

• WT limb blood syndrome

• Wyburn-Mason syndrome

• X-linked adrenal hypoplasia congenita

• X-linked agammaglobulinemia

• X-linked cardiac valvular dysplasia

• X-linked cerebral adrenoleukodystrophy

• X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease

• X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease

• X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease

• X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease

• X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease

• X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease

• X-linked complicated corpus callosum agenesis - See L1 syndrome

• X-linked complicated spastic paraplegia type 1 - See L1 syndrome

• X-linked congenital generalized hypertrichosis

• X-linked congenital stationary night blindness

• X-linked creatine deficiency

• X-linked dominant chondrodysplasia punctata 2

• X-linked dystonia-parkinsonism/Lubag

• X-linked hereditary sensory and autonomic neuropathy with deafness

• X-linked hypohidrotic ectodermal dysplasia

• X-linked hypophosphatemia

• X-linked ichthyosis

• X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis

• X-linked intellectual disability - short stature – obesity

• X-linked intellectual disability, Abidi type

• X-linked intellectual disability, Najm type

• X-linked intellectual disability, Schimke type

• X-linked intellectual disability, Siderius type

• X-linked intellectual disability, Turner type

• X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

• X-linked intellectual disability-plagiocephaly syndrome

• X-linked lissencephaly with abnormal genitalia

• X-linked lymphoproliferative disease due to SH2D1A deficiency

• X-linked lymphoproliferative syndrome

• X-linked myopathy with excessive autophagy

• X-linked myotubular myopathy

• X-linked non-specific intellectual disability

• X-linked periventricular heterotopia

• X-linked severe combined immunodeficiency

• X-linked sideroblastic anemia

• X-linked susceptibility to autism-4

• X-linked thrombocytopenia

• Xanthinuria type 1

• Xanthinuria type 2

• Xeroderma pigmentosum

• XFE progeroid syndrome

• Xia-Gibbs syndrome

• XK aprosencephaly

• Xp22.3 microdeletion syndrome

• Yellow nail syndrome

• Yemenite deaf-blind hypopigmentation syndrome

• Yorifuji Okuno syndrome

• Young syndrome

• Yunis-Varon syndrome

• Zadik Barak Levin syndrome

• ZAP-70 deficiency

• Zazam Sheriff Phillips syndrome

• Zechi Ceide syndrome

• Zellweger syndrome

• Zlotogora syndrome

• Zori Stalker Williams syndrome

• ZTTK syndrome

• Zunich neuroectodermal syndrome

NIH genetic and rare disease info

• NIH info on Congenital and genetic diseases

Congenital and genetic diseases is a rare disease.