Human genes for Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S [DOID:0110171]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Synonyms: Charcot-Marie-Tooth disease axonal type 2S, CharcotMarieTooth disease axonal type 2S, DOID:0110171, autosomal recessive axonal Charcot-Marie-Tooth type 2S, Charcot-Marie-Tooth disease type 2S ...