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.

FileAltruist File NameFile SizeDescription
clinical-exome-sequencing-abbie-baylor_1_sequence.fastq.bz23 GBAbbie: whole exome FASTQ 1 (Baylor)
clinical-exome-sequencing-abbie-baylor_2_sequence.fastq.bz23 GBAbbie: whole exome FASTQ 2 (Baylor)
exome-sequencing-abbie-genedx.bam8 GBAbbie: whole exome BAM (GeneDx)
exome-sequencing-abbie-genedx.vcf.gz5 MBAbbie: whole exome VCF (GeneDx)
nexus-custom-infinium-ii-array-abbie.csv210 KBAbbie: Nexus microarray CSV (Colby MD)
exome-sequencing-mother-genedx.bam7 GBMother: whole exome BAM (GeneDx)
exome-sequencing-mother-genedx.vcf.gz5 MBMother: whole exome VCF (GeneDx)
exome-sequencing-father-genedx.bam9 GBFather: whole exome BAM (GeneDx)
exome-sequencing-father-genedx.vcf.gz5 MBFather: whole exome VCF (GeneDx)
existence-genetics-nexus-microarray-results-2011-abbie.pdfNexus (custom infinium II beadarray) results