OBO ID: DOID:0111436 |
Term Name: | optic atrophy 11 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111436 ) |
OTHER optic atrophy 11 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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