Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive

Infancy

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive

Neonatal

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive

Autosomal recessive hypohidrotic ectodermal dysplasia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive hypophosphatemic rickets

Autosomal recessive

Childhood, Infancy

Autosomal recessive infantile hypercalcemia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease

Autosomal recessive

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive

Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive

Adult, All ages, Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive

Childhood

Autosomal recessive isolated diffuse palmoplantar keratoderma

Autosomal recessive

Autosomal recessive isolated optic atrophy

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive

Antenatal

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive

Infancy, Neonatal

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive

Childhood

Autosomal recessive malignant osteopetrosis

Autosomal recessive

Infancy, Neonatal

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 mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive

Infancy

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive

Infancy