hypomyelinating leukodystrophy 7

Summary

DOID:0060794 - hypomyelinating leukodystrophy 7

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Synonyms: HLD7, TACH syndrome, ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy, dentoleukoencephalopathy, hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, leukodystrophy with oligodontia, leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, tremor-ataxia-central hypomyelination syndrome,

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

: polr3a, polr3b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011897 - leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

MONDO:0011897 - leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Other Model Organisms: AGR, 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)