Adipose triglyceride lipase deficiency

Synonym(s)
- Neutral lipid storage disease with myopathy
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PNPLA2 / patatin like phospholipase domain containing 2
  11p15.5
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adipose triglyceride lipase
Disease group(s)
- 14.4 Disorders of glycerolipid metabolism
Child entries
- PNPLA2-related cardiomyovasculopathy