SRX12142074 NGS02378 SRP336594 PRJNA762368 Whole exome sequencing (WES) was performed using genomic DNA extracted from peripheral blood mononuclear cells from the index patient, her parents, paternal aunt, and paternal grandfather using the Illumina Exome Kit and HiSeq 2500 instrument according to the manufacturers protocols SRS10121463 SAMN21392178 NGS02378 Targeted-Capture GENOMIC PCR Illumina HiSeq 2500 SRX12142075 NGS02379 SRP336594 PRJNA762368 Whole exome sequencing (WES) was performed using genomic DNA extracted from peripheral blood mononuclear cells from the index patient, her parents, paternal aunt, and paternal grandfather using the Illumina Exome Kit and HiSeq 2500 instrument according to the manufacturers protocols SRS10121464 SAMN21392184 NGS02379 Targeted-Capture GENOMIC PCR Illumina HiSeq 2500 SRX12142076 NGS02380 SRP336594 PRJNA762368 Whole exome sequencing (WES) was performed using genomic DNA extracted from peripheral blood mononuclear cells from the index patient, her parents, paternal aunt, and paternal grandfather using the Illumina Exome Kit and HiSeq 2500 instrument according to the manufacturers protocols SRS10121465 SAMN21392187 NGS02380 Targeted-Capture GENOMIC PCR Illumina HiSeq 2500 SRX12142077 NGS02839-455 SRP336594 PRJNA762368 Whole exome sequencing (WES) was performed using genomic DNA extracted from peripheral blood mononuclear cells from the index patient, her parents, paternal aunt, and paternal grandfather using the Illumina Exome Kit and HiSeq 2500 instrument according to the manufacturers protocols SRS10121466 SAMN21392195 NGS02839-455 Targeted-Capture GENOMIC PCR Illumina HiSeq 2500 SRX12142078 NGS02838-461 SRP336594 PRJNA762368 Whole exome sequencing (WES) was performed using genomic DNA extracted from peripheral blood mononuclear cells from the index patient, her parents, paternal aunt, and paternal grandfather using the Illumina Exome Kit and HiSeq 2500 instrument according to the manufacturers protocols SRS10121467 SAMN21392189 NGS02838-461 Targeted-Capture GENOMIC PCR Illumina HiSeq 2500