Multiple congenital anomalies-hypotonia-seizures syndrome 1

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: PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability, PIGN-CDG, 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-related inherited GPI deficiency

0 clinical trials for this condition and its sub-types.