61
(75.2%)

DECIPHER:304650

Downslanted palpebral fissures Short foot Short palm Short philtrum

61
(75.2%)

DECIPHER:366661

Hooded upper eyelid Short foot Small hand Tented upper lip vermilion

61
(75.2%)

DECIPHER:249693

Abnormality of the palpebral fissures Aplasia/Hypoplasia involving the carpal bones Short philtrum

61
(75.2%)

DECIPHER:293250

Prominent eyelashes Short foot Short palm Thin upper lip vermilion

61
(75.2%)

DECIPHER:294256

Epicanthus Short palm Short toe Thin upper lip vermilion

61
(75.2%)

DECIPHER:359856

Downslanted palpebral fissures Short foot Short palm Short philtrum

61
(75.2%)

DECIPHER:250633

Long eyelashes Short palm Thin upper lip vermilion

61
(75.2%)

DECIPHER:4539

Epicanthus Short foot Short palm Short philtrum

61
(75.2%)

DECIPHER:255357

Abnormality of upper lip Blepharophimosis Short foot Short palm

61
(75.2%)

DECIPHER:266096

Epicanthus Short palm Short philtrum

61
(75.2%)

DECIPHER:250853

Short palm Telecanthus Thin upper lip vermilion

61
(75.2%)

DECIPHER:285014

Abnormality of the palpebral fissures Deep philtrum Short palm

61
(75.2%)

DECIPHER:4150

Abnormality of upper lip Downslanted palpebral fissures Short foot Short palm

61
(75.2%)

DECIPHER:325587

Abnormality of the philtrum Epicanthus Short palm

75
(75.1%)

DECIPHER:275507

High palate Long palpebral fissure Short foot Short fourth metatarsal Short thumb

76
(75.0%)

DECIPHER:274337

Absent cupid's bow Blepharophimosis Micrognathia Short foot

77
(74.8%)

MyGene2:832

Abnormal soft palate morphology Micrognathia Short thumb Slanting of the palpebral fissure

78
(74.7%)

DECIPHER:292092

Broad distal phalanx of finger Long eyebrows Long philtrum Microretrognathia

79
(74.7%)

MyGene2:35

Drooling Hypoplasia of proximal radius Myopathic facies Short thumb

80
(74.6%)

DECIPHER:278587

Aplasia/Hypoplasia of fingers Long philtrum Synophrys

81
(74.5%)

MyGene2:790

Cleft palate Long palpebral fissure Micrognathia Short palm

81
(74.5%)

DECIPHER:249612

Cleft palate Downslanted palpebral fissures Micrognathia Short palm

83
(74.4%)

DECIPHER:2375

Epicanthus Thin upper lip vermilion Upper limb peromelia

84
(74.4%)

DECIPHER:303432

Long palpebral fissure Short hallux Unilateral cleft lip

85
(74.3%)

DECIPHER:282624

Cleft palate Short thumb Synophrys

86
(74.3%)

DECIPHER:249001

Abnormality of the mandible Downslanted palpebral fissures Exaggerated cupid's bow Short toe

87
(74.2%)

DECIPHER:2514

Abnormality of the maxilla Blepharophimosis Short hallux Thin upper lip vermilion

88
(74.2%)

DECIPHER:3825

Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of metatarsal bones Epicanthus Narrow mouth Short thumb

89
(74.1%)

DECIPHER:304933

Short 5th finger Thin upper lip vermilion

89
(74.1%)

DECIPHER:249608

Short thumb Thin upper lip vermilion

89
(74.1%)

DECIPHER:284613

Broad philtrum Short distal phalanx of finger Short toe

89
(74.1%)

UDN:098

Short distal phalanx of finger Short palm Short philtrum

93
(74.0%)

DECIPHER:370943

Arthrogryposis multiplex congenita Forearm undergrowth

93
(74.0%)

DECIPHER:248253

Hypoplasia of the radius Renal agenesis

93
(74.0%)

DECIPHER:283293

Hydronephrosis Hypoplasia of the radius

96
(74.0%)

DECIPHER:284400

Aplasia/Hypoplasia of the ulna Lisch nodules

97
(73.9%)

MyGene2:2388

Abnormality of the ulna Hypotonia Short middle phalanx of finger

98
(73.9%)

MyGene2:118

Global developmental delay Upper limb undergrowth

99
(73.8%)

DECIPHER:282314

Short distal phalanx of the 2nd finger Short distal phalanx of toe Short first metatarsal

100
(73.8%)

DECIPHER:262925

Aplasia/hypoplasia involving forearm bones Penoscrotal hypospadias Short thumb

101
(73.6%)

DECIPHER:381355

Epicanthus Short 2nd toe Thin upper lip vermilion

101
(73.6%)

DECIPHER:249579

Short philtrum Short toe Upslanted palpebral fissure

101
(73.6%)

DECIPHER:266689

Brachydactyly Epicanthus Long philtrum Short foot

101
(73.6%)

DECIPHER:1629

Downslanted palpebral fissures Exaggerated cupid's bow Short toe

101
(73.6%)

DECIPHER:1576

Downslanted palpebral fissures Long philtrum Short toe

101
(73.6%)

DECIPHER:274236

Downslanted palpebral fissures Short toe Thick upper lip vermilion

107
(73.6%)

DECIPHER:273584

Blepharophimosis Mandibular prognathia Short foot Thick upper lip vermilion

108
(73.5%)

DECIPHER:263884

Long eyelashes Prominence of the premaxilla Short foot Smooth philtrum

109
(73.4%)

MyGene2:830

Micrognathia Short thumb Sparse lower eyelashes

110
(73.4%)

DECIPHER:269411

Epicanthus Narrow mouth Prominence of the premaxilla Short thumb

111
(73.3%)

MyGene2:818

Cleft soft palate Micrognathia Radioulnar synostosis Sparse lower eyelashes

112
(73.0%)

DECIPHER:292712

Short finger Thick lower lip vermilion

113
(72.9%)

DECIPHER:2753

Broad thumb Epicanthus Hypoplastic philtrum Malar flattening

114
(72.9%)

DECIPHER:1575

Epicanthus Mesomelic leg shortening Narrow mouth Short thumb

115
(72.9%)

DECIPHER:249672

Aplasia/Hypoplasia involving the metacarpal bones Blepharophimosis High palate Micrognathia

116
(72.9%)

DECIPHER:258712

Epicanthus Short foot Smooth philtrum

116
(72.9%)

DECIPHER:303467

Short foot Thin upper lip vermilion Upslanted palpebral fissure

116
(72.9%)

DECIPHER:1031

Long eyelashes Short foot Thin upper lip vermilion

116
(72.9%)

DECIPHER:280083

Long eyelashes Short foot Thick upper lip vermilion

116
(72.9%)

DECIPHER:284420

Epicanthus Short foot Thick upper lip vermilion