Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (PIGN)
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) is an autosomal recessive disorder caused by pathogenic variants in the gene PIGN. Onset of the condition is at birth or in utero. Features of this condition can occasionally be observed on prenatal ultrasound. Congenital anomalies include cardiac defects, diaphragmatic hernia, as well as gastrointestinal and urinary abnormalities. Affected individuals also experience seizures, severe hypotonia, and developmental delay/intellectual disability. This disorder is typically fatal in early childhood. No genotype/phenotype correlations have been documented.
For information about carrier frequency and residual risk, please see the residual risk table.