Term Name: | progressive leukoencephalopathy with ovarian failure |
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Synonyms: | ovarioleukodystrophy |
Definition: | An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. |
Ontology: | Human Disease [DOID:0070396] ( DOID:0070396 ) |