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Metadata
ID DOID:0111436
Name optic atrophy 11
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
Xrefs

OMIM:617302

Synonyms

OPA11 [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal recessive disease

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