Autosomal recessive congenital cerebellar ataxia

Autosomal recessive

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

Autosomal recessive

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive

Autosomal recessive distal myopathy

Autosomal recessive

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive

Autosomal recessive isolated diffuse palmoplantar keratoderma

Autosomal recessive

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive

All ages

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive

All ages

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive

Autosomal recessive severe congenital neutropenia

Autosomal recessive

Autosomal recessive spastic ataxia

Autosomal recessive

Autosomal recessive syndromic cerebellar ataxia

Autosomal recessive

B-cell non-Hodgkin lymphoma

Beta-thalassemia associated with another hemoglobin anomaly

Autosomal dominant, Autosomal recessive

All ages

Cerebral organic aciduria

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive

All ages

Chronic primary adrenal insufficiency

Multigenic/multifactorial

All ages

Citrin deficiency

Autosomal recessive

All ages

Citrullinemia

Autosomal recessive

Adult, Neonatal