Al Gazali Sabrinathan Nair syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2773
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hypersomnia |
| Intellectual disability |
| Thin metatarsal cortices |
| Pseudoepiphyses of the 2nd finger |
| Ectopic ossification |
| Type II diabetes mellitus |
| Neoplasm of the eye |
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