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optic atrophy 11
Summary
- Synonym
-
- OPA11
- 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.
- Super Class
- autosomal recessive disease optic atrophy
External Links
- Disease Ontology
- DOID:0111436
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96TA2 | ATP-dependent zinc metalloprotease YME1L1 |
