Charcot-Marie-Tooth disease type 4C

Term ID

DOID:0110183

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. https://www.ncbi.nlm.nih.gov/pubmed/14574644

References

• ICD10CM:G60.0
• OMIM:601596
• ORDO:99949

Ontology

Human Disease   ( DOID:0110183 )