Charcot-Marie-Tooth disease axonal type 2S

Term ID

DOID:0110171

Synonyms

• autosomal recessive axonal Charcot-Marie-Tooth type 2S
• Charcot-Marie-Tooth disease type 2S
• Charcot-Marie-Tooth neuropathy type 2S
• CMT2S

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25439726

References

• OMIM:616155
• ORDO:443073

Ontology

Human Disease   ( DOID:0110171 )