Xcode Life

Condition: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1

rs1568224018 in PIGN gene and MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 28327575 2017 Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.