Hypomyelinating Leukodystrophy 7
Disease ID: disease_node_19941
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| Dbxref | ICD10CM:G11.1, MIM:607694, ORDO:137639, ORDO:447893, ORDO:447896, ORDO:77295 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| 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 |
| Doid Label | hypomyelinating leukodystrophy 7 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19941 |
| Doid Id | DOID_0060794 |
| Label | Hypomyelinating Leukodystrophy 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)