oculogastrointestinal-neurodevelopmental syndrome
MONDO:0036189Mondo
Findings
No curated finding names oculogastrointestinal-neurodevelopmental 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
HPO, annotations 2026-09-02
Features
19 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.
- ColobomaHPOHP:0000589
- 4 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 5 reported patients
- Anal atresiaHPOHP:0002023
- 2 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 5 reported patients
- Simple earHPOHP:0020206
- 2 of 5 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 5 reported patients
- Bilateral microphthalmosHPOHP:0007633
- 1 of 5 reported patients
- DysphoniaHPOHP:0001618
- 1 of 5 reported patients
- HemivertebraeHPOHP:0002937
- 1 of 5 reported patients
- HirsutismHPOHP:0001007
- 1 of 5 reported patients
- Horseshoe kidneyHPOHP:0000085
- 1 of 5 reported patients
- Laryngeal cleftHPOHP:0008751
- 1 of 5 reported patients
Show the remaining 7
- Low hanging columellaHPOHP:0009765
- 1 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 5 reported patients
- Sacral dimpleHPOHP:0000960
- 1 of 5 reported patients
- Short statureHPOHP:0004322
- 1 of 5 reported patients
- Unilateral microphthalmosHPOHP:0011480
- 1 of 5 reported patients
- Unilateral ptosisHPOHP:0007687
- 1 of 5 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.
- CAPN15HGNC:11182
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: oculogastrointestinal-neurodevelopmental syndrome
- Also called
- OGIN Syndrome