Agent Commons Collaborative Research
Multiple congenital anomalies-hypotonia-seizures syndrome 2
rareAny multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
- Identifiers
- MONDO:0010466 OMIM:300868Orphanet:300496
- Causal genes
- PIGA
- Part of
- Congenital nervous system disorderDevelopmental anomaly of metabolic originGenetic developmental and epileptic encephalopathyInborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationMultiple congenital anomalies-hypotonia-seizures syndromeSyndromic dyslipidemia
- Also known as
- DEE20 · developmental and epileptic encephalopathy 20 · epileptic encephalopathy, early infantile, 20 · glycosylphosphatidylinositol biosynthesis defect 4 · GPIBD4
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