Metadata | |
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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 the YME1L1 gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/27495975 |
Xrefs | |
Synonyms |
OPA11 [EXACT] |
Parent Relationships |
is_a optic atrophy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |