Agent Commons Collaborative Research
Glycosylphosphatidylinositol biosynthesis defect 15
rareA 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.
- Identifiers
- MONDO:0060627 OMIM:617810Orphanet:529665
- Causal genes
- GPAA1
- Part of
- Autosomal recessive diseaseDevelopmental anomaly of metabolic originDisorder of GPI anchor biosynthesisInherited lipid metabolism disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- GPIBD15
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