multiple congenital anomalies-hypotonia-seizures syndrome 1

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multiple congenital anomalies-hypotonia-seizures syndrome 12016-11-27T09:22:12+00:00

multiple congenital anomalies-hypotonia-seizures syndrome 1 

GENETICS

An autosomal recessive disorder (OMIM:614080) characterised by neonatal hypotonia, poor psychomotor development, seizures, dysmorphic features, congenital cardiac, urinary, and GI tract anomalies and death by age 3.

Molecular pathology Defects in PIGN, the gene that encodes an ethanolamine phosphate transferase, cause multiple congenital anomalies-hypotonia-seizures syndrome 1.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGN

http://www.uniprot.org/uniprot/O95427

 

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