Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is a rare genetic disorder, characterized by infantile-onset epilepsy, hypotonia, global developmental delay, dysmorphic features, and variable congenital anomalies involving the cardiac, skeletal, and genitourinary systems. It is caused by the homozygous or compound heterozygous mutation in the phosphatidylinositol glycan class T (PIGT) gene. Only fewer cases were reported in the literature till now. We described a PIGT mutation in an Indian girl with global developmental delay, infantile-onset seizures, hypotonia, and facial dysmorphism. This case will help to expand the clinical spectrum of PIGT mutation.