OnlineIMD

POL3A-related disease

  • Synonym(s)
    • Hypomyelinating leukodystrophy type 7
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • POLR3A / RNA Polymerase III Subunit A
      • 10q22.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • DNA-directed RNA polymerase III subunit RPC1
  • Disease group(s)
    • 16.5.2    RNA polymerase III disorders
  • Child entries
    • Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
    • Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
    • Odontoleukodystrophy
    • Tremor-ataxia-central hypomyelination syndrome