Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
AIFM1 Apoptosis-inducing factor, Mitochondria-associated 1(M)       | Xq24-q26.1 | * Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.108, 14.46, 16.65)* Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.108, 14.46, 16.65)* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.108, 14.46, 16.65)* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.108, 14.46, 16.65)* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.108, 14.46, 16.65) |