GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Ethylmalonic Encephalopathy  
Disease Aliases (8)

Ee

Eme

Epema syndrome

Encephalopathy, petechiae, and ethylmalonic aciduria

Encephalopathy, ethylmalonic

Ethylmalonic encephalopathy

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

Encephalopathy, ethylmalonic; ee

Associated Genes (1)
 

NCBI-RefSeq:  ETHE1   (ETHE1 persulfide dioxygenase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Ethylmalonic encephalopathy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations