Term Name: autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
Synonyms:
Definition: A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
Ontology: Human Disease [DOID:0051028]   ( DOID:0051028 )

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