Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHSS-3) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs) which is transmitted in an autosomal recessive manner. A few cases of MCAHSS-3 were reported and characterized by hypotonia, global development delay, seizures and dysmorphic facial features. In addition, variable defects of the renal, cardiac, and skeletal systems are associated with MCAHSS-3 .
PIGT