multiple congenital anomalies-hypotonia-seizures syndrome type 2

multiple congenital anomalies-hypotonia-seizures syndrome type 2

An X-linked recessive developmental disorder (OMIM:300868) characterised by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac and urinary systems. Most affected individuals die in infancy. 

Molecular pathology
Defects in PIGA on chromosome Xp22.1, which encodes a transmembrane protein required for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, a very early intermediate in GPI-anchor biosynthesis, cause multiple congenital anomalies-hypotonia-seizures syndrome type 2.
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