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DOID:0060796 - hypomyelinating leukodystrophy 12
Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
Synonyms: HLD12,
Xenbase Genes
:
vps11
| MONDO:0014732 - hypomyelinating leukodystrophy 12 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypomyelinating leukodystrophy (is_a)