Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Autosomal dominant

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant

Autosomal dominant distal myopathy

Autosomal dominant

Autosomal dominant distal nebulin myopathy

Autosomal dominant

Autosomal dominant distal renal tubular acidosis

Autosomal dominant

Adolescent, Adult

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 axonal motor and sensory neuropathy

Autosomal dominant

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant

Adolescent, Childhood

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant

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 hypocalcemia

Autosomal dominant

All ages

Autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant

Infancy, Neonatal

Autosomal dominant hypophosphatemic rickets

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

Autosomal dominant

Childhood, Infancy

Autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant

Adolescent, Adult, Childhood