Search Ontology:
Human Disease

optic atrophy 11

Term ID
DOID:0111436
Synonyms
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/27495975
References
Ontology
Human Disease   ( DOID:0111436 )
Relationships
is a type of
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Genes Involved
Zebrafish Models