The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2773
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
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Olfactory lobe agenesis|
|Abnormality of lateral ventricle|
|Abnormality of vision|
|Severe global developmental delay|
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