megacystis-microcolon-intestinal hypoperistalsis syndrome
MONDO:0025986Mondo
Findings
No curated finding names megacystis-microcolon-intestinal hypoperistalsis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDCL3HGNC:28860
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- Narrower terms (5)