Homo sapiens
Female
single organism
SD 2CEKQ05V
Cornelia de Lange syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Ventricular septal defect
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the ...
Micrognathia
Developmental hypoplasia of the mandible.
Thin vermilion border
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently r...
Synophrys
Meeting of the medial eyebrows in the midline.
Long eyelashes
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through...
Downturned corners of mouth
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral com...
Highly arched eyebrow
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverte...
Short neck
Diminished length of the neck.
Proximal placement of thumb
Proximal mislocalization of the thumb.