intestinal dysmotility syndrome
MONDO:0859289Mondo
Findings
No curated finding names intestinal dysmotility syndrome 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
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
14 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.
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients
- Abdominal distentionHPOHP:0003270
- 1 of 2 reported patients
- Broad philtrumHPOHP:0000289
- 1 of 2 reported patients
- CataractHPOHP:0000518
- 1 of 2 reported patients
- Decreased intestinal transit timeHPOHP:0030897
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Pes valgusHPOHP:0008081
- 1 of 2 reported patients
Show the remaining 2
- Projectile vomitingHPOHP:0002587
- 1 of 2 reported patients
- Weight lossHPOHP:0001824
- 1 of 2 reported patients
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.
- ANO1HGNC:21625
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · LiferaOmics · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of