Charcot-Marie-Tooth disease X-linked recessive 4

Term ID

DOID:0110212

Synonyms

• axonal motor sensory neuropathy with deafness and mental retardation
• Charcot-Marie-Tooth disease with deafness and mental retardation
• CMT4X
• CMTX4
• NADMR
• NAMSD
• X-linked Charcot-Marie-Tooth disease type 4

Definition

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. https://www.ncbi.nlm.nih.gov/pubmed/23217327

References

• ICD10CM:G60.0
• OMIM:310490
• ORDO:101078

Ontology

Human Disease   ( DOID:0110212 )