Rare Disease Library

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

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

Autosomal recessive MSMD due to a complete deficiency

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

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive metabolic cerebellar ataxia

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C