Autosomal dominant cutis laxa

Autosomal dominant

Infancy, Neonatal

Autosomal dominant distal nebulin myopathy

Autosomal dominant

Autosomal dominant dopa-responsive dystonia

Autosomal dominant, Not applicable

Childhood

Autosomal dominant epidermolytic ichthyosis

Autosomal dominant

Neonatal

Autosomal dominant focal dystonia, DYT25 type

Autosomal dominant

Adult

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal dominant

Childhood

Autosomal dominant generalized dystrophic epidermolysis bullosa

Autosomal dominant

Infancy, Neonatal

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Autosomal dominant, Not applicable

Infancy, Neonatal

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Autosomal dominant

Neonatal

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant

Adolescent, Childhood

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

Autosomal dominant

Infancy, Neonatal

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant

Infancy, Neonatal

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant

Infancy, Neonatal

Autosomal dominant hypophosphatemic rickets

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

Autosomal dominant

Adult

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant

Adult

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant, Not applicable

No data available

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant

All ages

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant

All ages

Autosomal dominant keratitis

Autosomal dominant

Childhood

Autosomal dominant macrothrombocytopenia

Autosomal dominant

Adolescent, Adult, Childhood, Elderly, Infancy

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant

Adolescent