congenital short bowel syndrome, autosomal recessive
MONDO:0020718Mondo
Findings
No curated finding names congenital short bowel syndrome, autosomal recessive 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 · Infantile onset
HPO, annotations 2026-09-02
Features
11 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
- Chronic diarrheaHPOHP:0002028
- 3 of 3 reported patients
- Congenital shortened small intestineHPOHP:0030889
- 5 of 5 reported patients
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Intestinal atresiaHPOHP:0011100
- 1 of 1 reported patient
- Intestinal malrotationHPOHP:0002566
- 5 of 5 reported patients
- Intolerance to proteinHPOHP:0001984
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 3 of 3 reported patients
- VomitingHPOHP:0002013
- 1 of 1 reported patient
- Projectile vomitingHPOHP:0002587
- 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.
- CLMPHGNC:24039
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: congenital short bowel syndrome, autosomal recessive
- Also called
- congenital short bowel syndrome 1congenital short bowel syndrome due to CLMP variation