|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis. (Orphanet Rare Disease Ontology, Orphanet_99948)|
|Downloads & Tools|
1 genes associated with the Charcot-Marie-Tooth disease, type 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|GDAP1||ganglioside induced differentiation associated protein 1|