Charcot-Marie-Tooth disease dominant intermediate G

Term ID

DOID:0080294

Synonyms

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. https://pubmed.ncbi.nlm.nih.gov/28364294/

References

• MIM:617882

Ontology

Human Disease   ( DOID:0080294 )