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hypomyelinating leukodystrophy 7
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0060794
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
