gastrointestinal defects and immunodeficiency syndrome 2
MONDO:0030669Mondo
Findings
No curated finding names gastrointestinal defects and immunodeficiency syndrome 2 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
- Infantile onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
40 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.
- Delayed fine motor developmentHPOHP:0010862
- 6 of 6 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 6 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- DysphagiaHPOHP:0002015
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Inflammation of the large intestineHPOHP:0002037
- 6 of 7 reported patients
- NystagmusHPOHP:0000639
- 4 of 6 reported patients
- Intention tremorHPOHP:0002080
- 3 of 5 reported patients
- AtaxiaHPOHP:0001251
- 2 of 5 reported patients
- DysmetriaHPOHP:0001310
- 2 of 5 reported patients
- Intestinal atresiaHPOHP:0011100
- 5 of 13 reported patients
Show the remaining 28
- SeizureHPOHP:0001250
- 4 of 11 reported patients
- DystoniaHPOHP:0001332
- 2 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 6 reported patients
- PolymicrogyriaHPOHP:0002126
- 3 of 10 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 3 of 14 reported patients
- KyphosisHPOHP:0002808
- 3 of 14 reported patients
Where it sits
Other names
2 names
Resolves to: gastrointestinal defects and immunodeficiency syndrome 2
- Also called
- GIDID2multiple intestinal atresia with or without leukopenia