Charcot-Marie-Tooth disease axonal type 2X

Term ID

DOID:0110176

Synonyms

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

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/26556829

References

• OMIM:616668
• ORDO:466775

Ontology

Human Disease   ( DOID:0110176 )