Autosomal dominant cerebellar ataxia type IV

Autosomal dominant

Autosomal dominant complex spastic paraplegia

Autosomal dominant

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant optic atrophy

Autosomal dominant

Childhood

Autosomal dominant proximal spinal muscular atrophy

Autosomal dominant

Autosomal dominant pure spastic paraplegia

Autosomal dominant

Autosomal recessive axonal hereditary motor and sensory neuropathy

Autosomal recessive

Autosomal recessive cerebellar ataxia

Autosomal recessive

All ages

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive

Autosomal recessive complex spastic paraplegia

Autosomal recessive

Autosomal recessive congenital ichthyosis

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease

Autosomal recessive

Autosomal recessive pure spastic paraplegia

Autosomal recessive

Beta-thalassemia

Autosomal dominant, Autosomal recessive

Childhood, Infancy

Bilirubin encephalopathy

Not applicable

Infancy, Neonatal

Blepharophimosis-intellectual disability syndrome

Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Infancy, Neonatal

Bone sarcoma

Brachyolmia

Autosomal dominant, Autosomal recessive

Childhood

Bronchiolitis obliterans

Not applicable

All ages

C12ORF65-related combined oxidative phosphorylation defect

All ages

Capillary malformation-arteriovenous malformation

Autosomal dominant, Not applicable

Infancy, Neonatal

Carcinoma of esophagus

Adult