Thorase deficiency

Synonym(s)
- Hyperekplexia type 4
Type

Disease
External link(s)
- IEMbase
Gene
- ATAD1 / ATPase Family AAA Domain Containing 1
  10q23.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase family AAA domain-containing protein 1
Disease group(s)
- 23.3 Glutamate neurotransmitter disorders