| Term Name: | Charcot-Marie-tooth disease axonal type 2LL |
|---|---|
| Synonyms: | CMT2LL |
| Definition: | A Charcot-Marie-Tooth disease type 2 characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia that has_material_basis_in compound heterozygous mutation in the DARS2 gene, encoding mitochondrial aspartyl-tRNA synthetase, on chromosome 1q25. |
| Ontology: | Human Disease [DOID:0070839] ( DOID:0070839 ) |