Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PIGN gene, encoding GPI ethanolamine phosphate transferase 1. Though the phenotype is variable, it may be characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems.

**Synonyms:** - GPIBD3 - Glycosylphosphatidylinositol Biosynthesis Defect 3 - MCAHS1