Term Name: | hypomyelinating leukodystrophy 7 |
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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 |
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. |
Ontology: | Human Disease [DOID:0060794] ( DOID:0060794 ) |