Glycosylphosphatidylinositol biosynthesis defect 15
Glycosylphosphatidylinositol biosynthesis defect 15
Definition
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 — per MONDO