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progressive leukoencephalopathy with ovarian failure
Summary
- 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.
- Super Class
- autosomal recessive disease leukodystrophy
External Links
- Disease Ontology
- DOID:0070396
- Mondo Disease Ontology
- OMIM
