Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1)

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1, also known as glycosylphosphatidylinositol biosynthesis defect 3, is related to multiple congenital anomalies-hypotonia-seizures syndrome 3 and multiple congenital anomalies-hypotonia-seizures syndrome 4, and has symptoms including muscle spasticity, seizures and tremor. An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include skeletal muscle and lung, and related phenotypes are macrocephaly and hyperreflexia