Abbie (6 years old)
Abbie is a 6-year-old girl and she needs your help. She weighs just over 11 kg (25 lbs) and is 0.96 m (3.2 ft) tall.
Abbie suffers from failure to thrive, seizures, microcephaly and severe global developmental delays of unknown cause. She also has a large for her size atrial septal defect with right ventricular volume overload, mitral valve prolapse with moderate mitral valve insufficiency and an abnormal appearing mitral valve. There is no clinical evidence of heart failure.
Clinical whole-exome sequencing data from Abbie and her parents are available as well as numerous medical reports and blood tests.
UPDATE: The likely pathogenic variant has been identified in the HNRNPH2 gene on Chr X. Details can be found under 'Announcements' below.
|File||Altruist File Name||File Size||Description|
|clinical-exome-sequencing-abbie-baylor_1_sequence.fastq.bz2||3 GB||Abbie: whole exome FASTQ 1 (Baylor)|
|clinical-exome-sequencing-abbie-baylor_2_sequence.fastq.bz2||3 GB||Abbie: whole exome FASTQ 2 (Baylor)|
|exome-sequencing-abbie-genedx.bam||8 GB||Abbie: whole exome BAM (GeneDx)|
|exome-sequencing-abbie-genedx.vcf.gz||5 MB||Abbie: whole exome VCF (GeneDx)|
|nexus-custom-infinium-ii-array-abbie.csv||210 KB||Abbie: Nexus microarray CSV (Colby MD)|
|exome-sequencing-mother-genedx.bam||7 GB||Mother: whole exome BAM (GeneDx)|
|exome-sequencing-mother-genedx.vcf.gz||5 MB||Mother: whole exome VCF (GeneDx)|
|exome-sequencing-father-genedx.bam||9 GB||Father: whole exome BAM (GeneDx)|
|exome-sequencing-father-genedx.vcf.gz||5 MB||Father: whole exome VCF (GeneDx)|