| Metadata | |
|---|---|
| ID | DOID:0070396 |
| Name | progressive leukoencephalopathy with ovarian failure |
| 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. https://pubmed.ncbi.nlm.nih.gov/24808023/ |
| Xrefs | |
| SKOS |
exactMatch MIM:615889 |
| Synonyms |
ovarioleukodystrophy [RELATED] |
| Parent Relationships |
is_a leukodystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |