OnlineIMD
Mitochondrial dysmotility and/or enteropathy
Type
Phenotype
Associated genes
Gene list
TYMP
Thymidine phosphorylase deficiency
RRM2B
Mitochondrial ribonucleotide reductase small subunit deficiency
POLG
Mitochondrial DNA polymerase gamma catalytic subunit deficiency
ETHE1
Ethylmalonic encephalopathy
Parent entry
Mitochondrial gastrointestinal disease