| Metadata | |
|---|---|
| ID | DOID:0111437 |
| Name | optic atrophy 7 |
| Definition | An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/19327736 |
| Xrefs | |
| Synonyms |
OPA7 [EXACT] optic atrophy 7 with or without auditory neuropathy [EXACT] |
| Parent Relationships |
is_a optic atrophy |