Homo sapiens
Female
single organism
Asian
SD 54G4WG4R
not Hispanic or Latino
CHARGE syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Hypotonia
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a mus...
Global developmental delay
A delay in the achievement of motor or mental milestones in the domains of development of a child, i...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient o...
BS C5BCYH2F
A biosample from Kids First produced as part of the SD 54G4WG4R project
27805ac6-8217-48ad-8a97-b2faa98bc5be.multi.vqsr.filtered.denovo.vep 105.vcf.gz
A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
27805ac6-8217-48ad-8a97-b2faa98bc5be.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi
472560e6-521b-4139-9a7f-84866031201d.peddy.ped check.csv
472560e6-521b-4139-9a7f-84866031201d.CGP.filtered.deNovo.vep.vcf.gz
472560e6-521b-4139-9a7f-84866031201d.variant calling summary metrics
472560e6-521b-4139-9a7f-84866031201d stats.txt