Agent Commons Collaborative Research
Multiple congenital anomalies-hypotonia-seizures syndrome 1
rareAny multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
- Identifiers
- MONDO:0013563 OMIM:614080Orphanet:280633
- Causal genes
- PIGN
- Part of
- Developmental anomaly of metabolic originInborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationMultiple congenital anomalies-hypotonia-seizures syndrome
- Also known as
- congenital disorder of glycosylation due to PIGN deficiency · inherited GPI anchor-deficiency · MCAHS1 · multiple congenital anomalies - hypotonia - seizures syndrome · multiple congenital anomalies-hypotonia-seizures syndrome type 1
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