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

8
(78.6%)

DECIPHER:286623

Long eyelashes Short 5th finger Thin upper lip vermilion

8
(78.6%)

DECIPHER:285968

Downslanted palpebral fissures Long philtrum Short finger Short foot

8
(78.6%)

DECIPHER:265891

Downslanted palpebral fissures Short middle phalanx of the 5th finger Short philtrum

8
(78.6%)

DECIPHER:303680

Epicanthus Long philtrum Short 5th finger

8
(78.6%)

DECIPHER:264055

Epicanthus Short foot Short palm Short thumb Thick upper lip vermilion

8
(78.6%)

DECIPHER:286252

Absent cupid's bow Epicanthus Short finger

8
(78.6%)

DECIPHER:300448

Epicanthus Short thumb Thin upper lip vermilion

16
(77.7%)

DECIPHER:272082

Aplasia/Hypoplasia of the ulna Blepharophimosis Micrognathia

17
(77.7%)

DECIPHER:1350

Arachnodactyly Cleft palate Eyelid coloboma Micrognathia

18
(77.5%)

DECIPHER:274987

Long eyelashes Short thumb Thin vermilion border

18
(77.5%)

DECIPHER:283829

Epicanthus Short 5th finger Thin vermilion border

20
(77.4%)

MyGene2:835

Abnormal palate morphology Hypoplasia of the radius Micrognathia Slanting of the palpebral fissure

21
(77.3%)

DECIPHER:249933

Epicanthus inversus Long philtrum Microretrognathia Short palm

21
(77.3%)

DECIPHER:1570

Blepharophimosis Micrognathia Short palm Thin upper lip vermilion

23
(76.8%)

DECIPHER:285906

Bilateral cleft lip and palate Hemiatrophy Micrognathia Short foot Unilateral narrow palpebral fissure

24
(76.7%)

MyGene2:839

Eyelid coloboma Micrognathia Oral cleft

24
(76.7%)

MyGene2:840

Eyelid coloboma Micrognathia Oral cleft

24
(76.7%)

MyGene2:841

Eyelid coloboma Micrognathia Oral cleft

24
(76.7%)

MyGene2:842

Eyelid coloboma Micrognathia Oral cleft

24
(76.7%)

MyGene2:843

Eyelid coloboma Micrognathia Oral cleft

24
(76.7%)

MyGene2:844

Eyelid coloboma Micrognathia Oral cleft

30
(76.6%)

DECIPHER:253796

Aplasia/Hypoplasia involving the metacarpal bones Epicanthus Short philtrum

30
(76.6%)

DECIPHER:274624

Long philtrum Short 4th metacarpal Upslanted palpebral fissure

30
(76.6%)

DECIPHER:277607

Epicanthus Long philtrum Short metacarpal

33
(76.6%)

DECIPHER:276869

Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Horseshoe kidney

34
(76.6%)

DECIPHER:261540

Hypoplasia of the radius Thin upper lip vermilion

35
(76.2%)

DECIPHER:281255

Broad thumb Mandibular prognathia Short philtrum Short thumb

36
(76.2%)

MyGene2:820

Bilateral radial aplasia Cleft palate Micrognathia Slanting of the palpebral fissure

37
(76.1%)

DECIPHER:285497

Broad distal phalanx of finger Downslanted palpebral fissures Micrognathia Short philtrum

38
(76.1%)

DECIPHER:266723

Highly arched eyebrow Short 2nd finger Thick vermilion border

39
(76.1%)

DECIPHER:262263

Aplasia/Hypoplasia of the thumb Hypoplasia of the radius Polyhydramnios

39
(76.1%)

DECIPHER:256757

Aplasia/Hypoplasia of the thumb Hypoplasia of the radius Renal hypoplasia

41
(76.1%)

MyGene2:24

Short metatarsal Slanting of the palpebral fissure Thin upper lip vermilion

42
(75.9%)

DECIPHER:266187

Downslanted palpebral fissures Mandibular prognathia Short palm Thin upper lip vermilion

42
(75.9%)

DECIPHER:248176

Abnormality of upper lip Mandibular prognathia Short palm Upslanted palpebral fissure

44
(75.7%)

DECIPHER:294023

Short finger Submucous cleft soft palate Upslanted palpebral fissure

44
(75.7%)

MyGene2:1245

Cleft palate Long palpebral fissure Short 5th finger

44
(75.7%)

MyGene2:1235

Cleft palate Long palpebral fissure Short 5th finger

44
(75.7%)

MyGene2:1103

Cleft palate Long palpebral fissure Short 2nd toe Short finger

44
(75.7%)

MyGene2:1121

Cleft palate Long palpebral fissure Short 5th finger

44
(75.7%)

MyGene2:1133

Cleft palate Long eyelashes Short 5th finger

44
(75.7%)

MyGene2:1213

Cleft palate Long eyelashes Short 5th finger

44
(75.7%)

MyGene2:1095

Cleft palate Long palpebral fissure Short 5th finger

44
(75.7%)

MyGene2:924

Cleft palate Long eyelashes Short 5th finger

44
(75.7%)

MyGene2:1111

Cleft palate Long eyelashes Short 5th finger

54
(75.6%)

DECIPHER:249192

Aplasia/Hypoplasia of the ulna Submucous cleft hard palate

55
(75.5%)

DECIPHER:249772

Broad thumb Exaggerated cupid's bow Short thumb

55
(75.5%)

DECIPHER:303995

Broad thumb Short 5th finger Thin upper lip vermilion

57
(75.4%)

DECIPHER:300797

Curved middle phalanx of the 5th finger Micrognathia Thin vermilion border Upslanted palpebral fissure

58
(75.3%)

DECIPHER:307759

Deep philtrum Epicanthus Genu valgum Large hands Mandibular prognathia

59
(75.3%)

DECIPHER:301808

Micrognathia Non-midline cleft lip Unilateral radial aplasia

60
(75.2%)

DECIPHER:1581

Aplasia of the phalanges of the hand Blepharophimosis Non-midline cleft lip