Total: 18893 cases
1(80.4%)
DECIPHER:276525
Aplasia/Hypoplasia of the 1st metacarpal Hypoplasia of the radius Long philtrum Synophrys
2(80.4%)
MyGene2:831
Absent lower eyelashes Cleft soft palate Micrognathia Radioulnar synostosis Short thumb
3(80.0%)
DECIPHER:275487
Broad thumb Downslanted palpebral fissures Short finger Short foot Smooth philtrum
4(79.3%)
DECIPHER:304548
Epicanthus Mandibular prognathia Short 5th finger Thin upper lip vermilion
5(79.1%)
DECIPHER:283150
Cleft palate Hypoplasia of the ulna Postaxial oligodactyly Retrognathia
6(78.8%)
DECIPHER:263271
Abnormal eyelid morphology Long philtrum Mesomelic/rhizomelic limb shortening Short thumb Short toe
7(78.7%)
DECIPHER:256994
Broad thumb Downslanted palpebral fissures Micrognathia Short palm Thin upper lip vermilion
8(78.6%)
DECIPHER:276798
Downslanted palpebral fissures Exaggerated cupid's bow Short 5th finger
DECIPHER:286623
Long eyelashes Short 5th finger Thin upper lip vermilion
DECIPHER:285968
Downslanted palpebral fissures Long philtrum Short finger Short foot