Palmitoyl-protein thioesterase 1 deficiency

Synonym(s)
- CLN1 disease
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PPT1 / Palmitoyl Protein Thioesterase 1
  1p34.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Palmitoyl protein thioesterase 1
Disease group(s)
- 20.4 Neuronal ceroid lipofuscinoses (NCL)