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Up to: Autosomal recessive disease · Inherited lipid metabolism disorder · Developmental anomaly of metabolic origin · Disorder of GPI anchor biosynthesis · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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.
This condition has no sub-types.