osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
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.
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0005283
retinal disorder
is_a
MONDO:0005287
developmental disability
is_a
MONDO:0019019
osteogenesis imperfecta
is_a
MONDO:0043878
hereditary optic atrophy
is_a
Al Gazali Sabrinathan Nair syndrome
related
Al Gazali-Nair syndrome
exact
osteogenesis imperfecta retinopathy seizures intellectual deficit
related