osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Findings
No curated finding names osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
Definition from the Mondo Disease Ontology (MONDO:0017196), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe global developmental delay
Where it sits
Other names
1 name
Resolves to: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Also called
- Al Gazali-Nair syndrome