Homo sapiens
Male
single organism
Asian
SD Q2F7XA29
not Hispanic or Latino
central nervous system disease
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...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient o...
Cerebellar atrophy
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa...
BS YPG84YBG
A biosample from Kids First produced as part of the SD Q2F7XA29 project
a8b3ee39-5dff-49c6-a34e-f6e855f8d1af.peddy.ped check.csv
A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
a8b3ee39-5dff-49c6-a34e-f6e855f8d1af.CGP.filtered.deNovo.vep.vcf.gz
a8b3ee39-5dff-49c6-a34e-f6e855f8d1af.peddy.het check.csv
8eea7057-f41f-4265-b156-a1641081f52e.multi.vqsr.filtered.denovo.vep 105.vcf.gz
a8b3ee39-5dff-49c6-a34e-f6e855f8d1af.peddy.peddy.ped
a8b3ee39-5dff-49c6-a34e-f6e855f8d1af.variant calling detail metrics