Term Name: Charcot-Marie-Tooth disease axonal type 2S
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth type 2S, Charcot-Marie-Tooth disease type 2S, Charcot-Marie-Tooth neuropathy type 2S, CMT2S
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Ontology: Human Disease [DOID:0110171]   ( DOID:0110171 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 2