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Disease Ontology Browser
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism (DOID:0060794)
Alliance: disease page
Synonyms: ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome
Alt IDs: OMIM:607694, ICD10CM:G11.1, ORDO:137639, ORDO:447893, ORDO:447896, ORDO:77295
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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01/12/2022
MGI 6.17 		The Jackson Laboratory