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Summary Literature (0)
DOID:0060792 - hypomyelinating leukodystrophy 11

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

Synonyms: HLD11,

Xenbase Genes : polr1c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014666 - hypomyelinating leukodystrophy 11


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)