immune dysregulation, neurodevelopmental defects, and colitis
MONDO:0980702Mondo
Findings
No curated finding names immune dysregulation, neurodevelopmental defects, and colitis 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 · Third trimester onset
HPO, annotations 2026-09-02
Features
36 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.
- Atopic dermatitisHPOHP:0001047
- 2 of 2 reported patients
- ColitisHPOHP:0002583
- 2 of 2 reported patients
- Colonic eosinophiliaHPOHP:0031813
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Increased total eosinophil countHPOHP:0001880
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Monoclonal elevated circulating IgE concentrationHPOHP:0032337
- 2 of 2 reported patients
- Recurrent fungal infectionsHPOHP:0002841
- 2 of 2 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 1 of 1 reported patient
- Anoperineal fistulaHPOHP:0005218
- 1 of 2 reported patients
- Anteriorly placed anusHPOHP:0001545
- 1 of 2 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 2 reported patients
Show the remaining 24
- Bilateral polymicrogyriaHPOHP:0025646
- 1 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 2 reported patients
- Exudative vitreoretinopathyHPOHP:0030490
- 1 of 2 reported patients
- Food allergyHPOHP:0500093
- 1 of 2 reported patients
Where it sits
- A kind of