A likely pathogenic variant putatively affecting splicing of <i><scp>PIGA</scp></i> identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (<scp>MCAHS</scp>2) family pedigree via whole‐exome sequencing

Abstract

WES data analysis along with familial segregation of a rare intronic variant are suggestive of a diagnosis of X-liked PIGA deficiency with clinical features of MCAHS2.