Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | C3276549 | OPA1 | Causal Pathogenic evidence from ClinVar | 9917792, 11017079, 15531309, 16240368, 18065439, 18158317, 18195150, 20185555, 21112924, 21646330, 23387428, 27604308 | ClinVar |