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DO Term : optic atrophy 11 [DOID:0111436] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 617302,
  • OMIM:617302,
  • OPA11
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Ontology Term --> Direct parents