Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
MIM:607694 - LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7


Xenbase Genes: polr3a, polr3b

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011897 - leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
MONDO:0018655 - hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
MONDO:0018656 - tremor-ataxia-central hypomyelination syndrome
MONDO:0019177 - odontoleukodystrophy
MONDO:0019505 - obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Disease Ontology (DO):
DOID:0060794 - hypomyelinating leukodystrophy 7