| Term Name: | Charcot-Marie-tooth disease axonal type 2HH |
|---|---|
| Synonyms: | CMT2HH |
| Definition: | A Charcot-Marie-Tooth disease type 2 characterized by onset of vocal cord weakness resulting in stridor in infancy or early childhood that has_material_basis_in heterozygous mutation in the JAG1 gene on chromosome 20p12. |
| Ontology: | Human Disease [DOID:0070837] ( DOID:0070837 ) |