Search Ontology:
Human Disease

hypomyelinating leukodystrophy 7

Term ID
DOID:0060794
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. (2)
References
  • ICD10CM:G11.1
  • MIM:607694
  • ORDO:137639
  • ORDO:447893
  • ORDO:447896
  • ORDO:77295
Ontology
Human Disease   ( DOID:0060794 )
Relationships
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Genes Involved
Zebrafish Models