OBO ID: DOID:0060794
Term Name: hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism Search Ontology:
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
  • OMIM:607694
  • ORDO:137639
  • ORDO:447893
  • ORDO:447896
  • ORDO:77295
Ontology: Human Disease   (DOID:0060794)
OTHER hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None