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DOID:0060794 - hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
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,
Echinobase Genes : polr3a
MIM:607694 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; hld7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypomyelinating leukodystrophy (is_a)