Term Name: Charcot-Marie-Tooth disease type 4C
Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth neuropathy type 4C, CMT4C
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
Ontology: Human Disease [DOID:0110183]   ( DOID:0110183 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4