progressive leukoencephalopathy with ovarian failure

Term ID

DOID:0070396

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. https://pubmed.ncbi.nlm.nih.gov/24808023/

References

• OMIM:615889

Ontology

Human Disease   ( DOID:0070396 )