multiple congenital anomalies-hypotonia-seizures syndrome type 1

multiple congenital anomalies-hypotonia-seizures syndrome type 1

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

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