| Metadata | |
|---|---|
| ID | DOID:0111436 |
| Name | optic atrophy 11 |
| Definition | An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/27495975 |
| Xrefs | |
| Synonyms |
OPA11 [EXACT] |
| Parent Relationships |
is_a optic atrophy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |