megacystis-microcolon-intestinal hypoperistalsis syndrome 3
MONDO:0030294Mondo
Findings
No curated finding names megacystis-microcolon-intestinal hypoperistalsis syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Second trimester onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Fetal megacystisHPOHP:0010956
- 1 of 1 reported patient · Second trimester onset
- HydronephrosisHPOHP:0000126
- 1 of 1 reported patient
- HydroureterHPOHP:0000072
- 1 of 1 reported patient
- MicrocolonHPOHP:0004388
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient · Fetal onset
- SepsisHPOHP:0100806
- 1 of 1 reported patient
- Abnormal heart morphologyHPOHP:0001627
- 0 of 1 reported patient
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.
- LMOD1HGNC:6647
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
1 name
Resolves to: megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- Also called
- MMIHS3