GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Neutral Lipid Storage Myopathy  
Disease Aliases (7)

Neutral lipid storage disease without ichthyosis

Nlsdm

Neutral lipid storage disease with myopathy

Neutral lipid storage disease with myopathy without ichthyosis

Neutral lipid storage disease with myopathy; nlsdm

Neutral lipid storage myopathy

Triglyceride deposit cardiomyovasculopathy

Associated Genes (1)
 

NCBI-RefSeq:  PNPLA2   (Patatin like phospholipase domain containing 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Neutral lipid storage myopathy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations