hypomyelinating leukodystrophy 15

Summary

DOID:0070398 - hypomyelinating leukodystrophy 15

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.

Synonyms: HLD15

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: eprs1

MIM:

MIM:617951 - LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

MIM:617951 - LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hypomyelinating leukodystrophy (is_a)