Homo sapiens
Male
single organism
SD 2CEKQ05V
Cornelia de Lange 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...
Synophrys
Meeting of the medial eyebrows in the midline.
Long eyelashes
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Highly arched eyebrow
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverte...
BS T7GNMV6D
A biosample produced as part of the SD 2CEKQ05V project
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory...
BS W1FQTCGD
A biosample from Kids First produced as part of the SD 2CEKQ05V project
CDL-612-12P-R.bai
A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
e609645c-7e42-4948-ba3a-2c37b4da2911.Aligned.out.sorted.bam.metrics.tsv
e609645c-7e42-4948-ba3a-2c37b4da2911.rsem.isoforms.results.gz