| Metadata | |
|---|---|
| ID | DOID:0060794 |
| Name | hypomyelinating leukodystrophy 7 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12605447, https://www.ncbi.nlm.nih.gov/pubmed/21855841 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy [EXACT] dentoleukoencephalopathy [EXACT] HLD7 [EXACT] hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [EXACT] leukodystrophy with oligodontia [EXACT] leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [EXACT] TACH syndrome [EXACT] tremor-ataxia-central hypomyelination syndrome [EXACT] |
| Parent Relationships |