- Autosomal recessive limb-girdle muscular dystrophy
- Autosomal recessive isolated optic neuropathy
- Autosomal recessive hyper IgE syndrome
- Autosomal recessive HIES
- Autosomal recessive hereditary sensory and autonomic neuropathy
- Autosomal recessive hereditary distal motor neuropathy
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy
- Autosomal recessive diffuse palmoplantar keratoderma
- Autosomal recessive degenerative and progressive cerebellar ataxia
- Autosomal recessive congenital cerebellar ataxia
- Autosomal recessive circumscribed palmoplantar keratoderma
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive Charcot-Marie-Tooth disease, type 2
- Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
- Autosomal recessive cerebellar ataxia due to a DNA repair defect
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