ACMG	American College of Human Genetics and Genomics;
CDH	Congenital diaphragmatic hernia;
EtNP	Ethanolamine phosphate;
FS	Fryns syndrome;
gDNA	Genomic DNA;
GPI	Glycosylphosphatidylinositol;
IGV	Integrative Genomics Viewer;
MCAHS	Multiple congenital anomalies-hypotonia-seizures syndrome;
MCAHS1	Multiple congenital anomalies-hypotonia-seizures syndrome 1;
mRNA	Messenger RNA;
NGS	Next-generation sequencing;
PCR	Polymerase chain reaction;
PIGA	Phosphatidylinositol glycan biosynthesis class A;
PIGN	Phosphatidylinositol glycan biosynthesis class N;
PIGQ	Phosphatidylinositol glycan biosynthesis class Q;
PIGT	Phosphatidylinositol glycan biosynthesis class T;
VCF	Variant calling format;
WES	Whole exome sequencing.