Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Definition
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
Also known as congenital disorder of glycosylation due to PIGN deficiency, inherited GPI anchor-deficiency, multiple congenital anomalies-hypotonia-seizures syndrome 1, multiple congenital anomalies-hypotonia-seizures syndrome type 1, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN, PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability, PIGN-CDG — per MONDO