ATP13A2 deficiency

Synonym(s)
- CLN12 disease
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATP13A2 / ATPase 13A2
  1p36.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase Type 13A2
Disease group(s)
- 20.4 Neuronal ceroid lipofuscinoses (NCL)
Child entries
- Autosomal recessive spastic paraplegia type 78
- Kufor-Rakeb syndrome