Homo sapiens
Male
single organism
Asian
SD 54G4WG4R
not Hispanic or Latino
CHARGE syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Global developmental delay
A delay in the achievement of motor or mental milestones in the domains of development of a child, i...
Metopic synostosis
Premature fusion of the metopic suture.
BS VV7ZENTE
A biosample from Kids First produced as part of the SD 54G4WG4R project
Autistic behavior
Persistent deficits in social interaction and communication and interaction as well as a markedly re...
f78715cb-6eac-4fae-8ce9-738a8e8085e7.variant calling detail metrics
A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
f78715cb-6eac-4fae-8ce9-738a8e8085e7.CGP.filtered.deNovo.vep.vcf.gz.tbi
f78715cb-6eac-4fae-8ce9-738a8e8085e7.peddy.html
f78715cb-6eac-4fae-8ce9-738a8e8085e7.variant calling summary metrics
f78715cb-6eac-4fae-8ce9-738a8e8085e7.peddy.vs.html
f78715cb-6eac-4fae-8ce9-738a8e8085e7.CGP.filtered.deNovo.vep.vcf.gz