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

• OMIM:617302

Ontology

Human Disease   ( DOID:0111436 )