Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

MONDO:0017196

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.

Also known as: Al Gazali-Nair syndrome, Al Gazali Sabrinathan Nair syndrome, osteogenesis imperfecta retinopathy seizures intellectual deficit

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