autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis

Term ID

DOID:0051028

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. https://pubmed.ncbi.nlm.nih.gov/15358725/

References

• MIM:607706

Ontology

Human Disease   ( DOID:0051028 )