megacystis-microcolon-intestinal hypoperistalsis syndrome 4
MONDO:0030296Mondo
Findings
No curated finding names megacystis-microcolon-intestinal hypoperistalsis syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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
- Cerebral white matter atrophyHPOHP:0012762
- 1 of 1 reported patient
- Fetal pyelectasisHPOHP:0010945
- 1 of 1 reported patient
- HypoperistalsisHPOHP:0100771
- 1 of 1 reported patient
- Kidney stoneHPOHP:0000787
- 1 of 1 reported patient
- MegacystisHPOHP:0000021
- 1 of 1 reported patient
- MydriasisHPOHP:0011499
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 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.
- MYL9HGNC:15754
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- Also called
- MMIHS4