Glycosylphosphatidylinositol biosynthesis defect 15

A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.

Also known as: glycosylphosphatidylinositol biosynthesis defect 15, GPIBD15, developmental delay, epilepsy, cerebellar atrophy, and osteopenia

0 clinical trials for this condition and its sub-types.