Term Name: | autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis |
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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 ) |