Term Name: Charcot-Marie-Tooth disease axonal type 2X
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2X, Charcot-Marie-Tooth neuropathy type 2X
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
Ontology: Human Disease [DOID:0110176]   ( DOID:0110176 )

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