Glycosylphosphatidylinositol biosynthesis defect 15

MONDO:0060627

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, 0 tagged with Glycosylphosphatidylinositol biosynthesis defect 15 itself.

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↑ Autosomal recessive disease (994) ↑ Inherited lipid metabolism disorder (644) ↑ Developmental anomaly of metabolic origin (383) ↑ Disorder of GPI anchor biosynthesis (73) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Glycosylphosphatidylinositol biosynthesis defect 15 (0)

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