The genomic DNA of the proband underwent WES and copy number variation sequencing (CNV-Seq)
Genomic DNA was extracted from peripheral blood samples obtained from the proband, and the younger sibling and parents of the proband. The genomic DNA of the proband underwent whole exome sequencing (WES) and copy number variation sequencing (CNV-Seq), following the manufacturers protocols (Tiangen Biotech Co., Ltd.).Libraries were sequenced using the Illumina NextSeq 2000 platform. The platform was recorded as Illumina HiSeq 4000 in the metadata due to field limitations.