60
(84.0%)

WHCR

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM)

Autosomal dominant inheritance Sporadic

60
(84.0%)

CTBP1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (OMIM)

Autosomal dominant inheritance Sporadic

60
(84.0%)

LETM1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) Wolf-Hirschhorn syndrome (ORDO)

Autosomal dominant inheritance Sporadic

60
(84.0%)

NSD2

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) Wolf-Hirschhorn syndrome (ORDO)

Autosomal dominant inheritance Sporadic

60
(84.0%)

CPLX1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) developmental and epileptic encephalopathy, 63 (OMIM) Familial infantile myoclonic epilepsy (ORDO)

Autosomal dominant inheritance Sporadic Autosomal recessive inheritance

66
(83.9%)

FLI1

Eyelid coloboma Missing ribs Short toe Smooth philtrum

bleeding disorder, platelet-type, 21 (OMIM) Jacobsen syndrome (ORDO) Peripheral primitive neuroectodermal tumor (ORDO) Paris-Trousseau thrombocytopenia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

67
(83.9%)

AFF4

Downslanted palpebral fissures Hypoplasia of proximal radius Micrognathia Small hand Thin upper lip vermilion

cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome (OMIM) Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome (ORDO)

Autosomal dominant inheritance

68
(83.9%)

TWIST2

Cryptophthalmos Micrognathia Short metacarpal Short upper lip

ablepharon macrostomia syndrome (OMIM) Barber-Say syndrome (OMIM) focal facial dermal dysplasia type III (OMIM) Barber-Say syndrome (ORDO) Focal facial dermal dysplasia type III (ORDO) Ablepharon macrostomia syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

69
(83.9%)

FZD2

Epicanthus Median cleft lip and palate Micrognathia Short 1st metacarpal Short humerus

autosomal dominant omodysplasia (OMIM) Autosomal dominant Robinow syndrome (ORDO) Autosomal dominant omodysplasia (ORDO)

Autosomal dominant inheritance

69
(83.9%)

TCTN3

Epicanthus Median cleft lip Micrognathia Short finger Short tibia

orofaciodigital syndrome IV (OMIM) Joubert syndrome 18 (OMIM) Orofaciodigital syndrome type 4 (ORDO) Orofaciodigital syndrome type 6 (ORDO)

Autosomal recessive inheritance X-linked recessive inheritance

69
(83.9%)

WDR35

Cleft upper lip Epicanthus Micrognathia Short distal phalanx of finger Short long bone

cranioectodermal dysplasia 2 (OMIM) short-rib thoracic dysplasia 7 with or without polydactyly (OMIM) Cranioectodermal dysplasia (ORDO) Short rib-polydactyly syndrome, Verma-Naumoff type (ORDO)

Autosomal recessive inheritance

72
(83.9%)

CDH11

Eyelid coloboma Mandibular prognathia Thin upper lip vermilion Upper limb peromelia

Branchioskeletogenital syndrome (ORDO)

Autosomal recessive inheritance

73
(83.9%)

DPM1

Downslanted palpebral fissures Micrognathia Short palm Smooth philtrum Upper limb undergrowth

congenital disorder of glycosylation type 1E (OMIM) DPM1-CDG (ORDO)

Autosomal recessive inheritance

73
(83.9%)

BPTF

Epicanthus Micrognathia Small hand Thin upper lip vermilion Upper limb undergrowth

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (OMIM) 17q24.2 microdeletion syndrome (ORDO)

Autosomal dominant inheritance

75
(83.8%)

SCARF2

Blepharophimosis Distal ulnar hypoplasia Everted lower lip vermilion Hypoplasia of the maxilla

van den Ende-Gupta syndrome (OMIM)

Autosomal recessive inheritance

76
(83.8%)

WNT7A

Aplasia of the ulna Cleft palate Epicanthus Hand oligodactyly Micrognathia

Fuhrmann syndrome (OMIM) phocomelia, Schinzel type (OMIM) Phocomelia, Schinzel type (ORDO)

Autosomal recessive inheritance

77
(83.7%)

CHN1

Aplasia/Hypoplasia of the thumb Blepharophimosis Everted lower lip vermilion Hypoplasia of the radius Micrognathia

Duane retraction syndrome 2 (OMIM) Duane retraction syndrome (ORDO)

Autosomal dominant inheritance

77
(83.7%)

MAFB

Aplasia/Hypoplasia of the thumb Everted lower lip vermilion Hypoplasia of the radius Micrognathia Telecanthus

multicentric carpo-tarsal osteolysis with or without nephropathy (OMIM) Duane retraction syndrome 3 with or without deafness (OMIM) Duane retraction syndrome (ORDO) Multicentric carpo-tarsal osteolysis with or without nephropathy (ORDO)

Autosomal dominant inheritance

79
(83.5%)

BCOR

Blepharophimosis Cleft upper lip Radioulnar synostosis Short clavicles Short thumb

microphthalmia, syndromic 2 (OMIM) microphthalmia, syndromic 1 (OMIM) Oculofaciocardiodental syndrome (ORDO) Acute promyelocytic leukemia (ORDO) Microphthalmia, Lenz type (ORDO)

X-linked dominant inheritance X-linked inheritance Somatic mutation

80
(83.4%)

IFIH1

Expanded phalanges with widened medullary cavities Eyelid coloboma Hypoplasia of the maxilla Smooth philtrum

Singleton-Merten syndrome 1 (OMIM) Aicardi-Goutieres syndrome 7 (OMIM) Aicardi-Goutières syndrome (ORDO)

Autosomal dominant inheritance