Term Name: progressive leukoencephalopathy with ovarian failure
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 )

Relationships
is a type of: autosomal recessive disease leukodystrophy