OBO ID: DOID:0111436
Term Name: optic atrophy 11 Search Ontology:
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 YME1L1 on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/27495975
References:
Ontology: Human Disease   (DOID:0111436)
OTHER optic atrophy 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
YME1L1 ?Optic atrophy 11 617302
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None