41
(87.1%)

EXT2

Epicanthus Hypoplasia of the ulna Micrognathia Short metacarpal Short philtrum

exostoses, multiple, type 2 (OMIM) seizures-scoliosis-macrocephaly syndrome (OMIM) Multiple osteochondromas (ORDO) Seizures-scoliosis-macrocephaly syndrome (ORDO) Potocki-Shaffer syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Contiguous gene syndrome

42
(86.9%)

OBSL1

Hypoplasia of the ulna Long philtrum Micromelia Short 5th finger Thick eyebrow

3M syndrome 2 (OMIM) 3M syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

43
(86.4%)

PIGT

Hypoplasia of the ulna Long philtrum Micrognathia Upslanted palpebral fissure

multiple congenital anomalies-hypotonia-seizures syndrome 3 (OMIM) paroxysmal nocturnal hemoglobinuria 2 (OMIM) Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance Somatic mutation

44
(86.0%)

COL2A1

Hypoplasia of the ulna Long philtrum Micrognathia Narrow mouth Short distal phalanx of the 3rd finger

Stickler syndrome type 1 (OMIM) multiple epiphyseal dysplasia, Beighton type (OMIM) Legg-Calve-Perthes disease (OMIM) platyspondylic dysplasia, Torrance type (OMIM) Kniest dysplasia (OMIM) spondyloepiphyseal dysplasia congenita (OMIM) spondyloepimetaphyseal dysplasia, Strudwick type (OMIM) spondylometaphyseal dysplasia, 'corner fracture' type (OMIM) achondrogenesis type II (OMIM) spondyloperipheral dysplasia-short ulna syndrome (OMIM) mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (OMIM) avascular necrosis of femoral head, primary, 1 (OMIM) Czech dysplasia, metatarsal type (OMIM) Stickler syndrome, type I, nonsyndromic ocular (OMIM) spondyloepiphyseal dysplasia, Stanescu type (OMIM) Multiple epiphyseal dysplasia, Beighton type (ORDO) Stickler syndrome type 3 (ORDO) Spondyloperipheral dysplasia-short ulna syndrome (ORDO) Legg-Calvé-Perthes disease (ORDO) Kniest dysplasia (ORDO) Platyspondylic dysplasia, Torrance type (ORDO) Dysspondyloenchondromatosis (ORDO) Familial avascular necrosis of femoral head (ORDO) Stickler syndrome type 1 (ORDO) Achondrogenesis type 2 (ORDO) Spondylometaphyseal dysplasia, 'corner fracture' type (ORDO) Spondylometaphyseal dysplasia, Schmidt type (ORDO) Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORDO) Spondyloepiphyseal dysplasia congenita (ORDO)

Autosomal dominant inheritance Multifactorial inheritance

45
(85.7%)

EXT1

Aplasia/Hypoplasia of the mandible Hypoplasia of the ulna Short metacarpal Thick eyebrow Thin upper lip vermilion

exostoses, multiple, type 1 (OMIM) chondrosarcoma (disease) (OMIM) Multiple osteochondromas (ORDO) Trichorhinophalangeal syndrome type 2 (ORDO)

Autosomal dominant inheritance Somatic mutation

46
(85.6%)

PHGDH

Ablepharon Cleft upper lip Large hands Micrognathia Micromelia

Neu-Laxova syndrome 1 (OMIM) PHGDH deficiency (OMIM) Neu-Laxova syndrome (ORDO) 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORDO)

Autosomal recessive inheritance

47
(85.5%)

FLNA

Epicanthus Micrognathia Radial bowing Short distal phalanx of the thumb Smooth philtrum

intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (OMIM) heterotopia, periventricular, X-linked dominant (OMIM) terminal osseous dysplasia-pigmentary defects syndrome (OMIM) FG syndrome 2 (OMIM) otopalatodigital syndrome type 2 (OMIM) frontometaphyseal dysplasia 1 (OMIM) Melnick-Needles syndrome (OMIM) otopalatodigital syndrome type 1 (OMIM) cardiac valvular dysplasia, X-linked (OMIM) Frontometaphyseal dysplasia (ORDO) Congenital short bowel syndrome (ORDO) Melnick-Needles syndrome (ORDO) X-linked Ehlers-Danlos syndrome (ORDO) Otopalatodigital syndrome type 1 (ORDO) Otopalatodigital syndrome type 2 (ORDO) Periventricular nodular heterotopia (ORDO) Neuronal intestinal pseudoobstruction (ORDO)

X-linked recessive inheritance X-linked dominant inheritance X-linked inheritance Autosomal recessive inheritance

48
(85.3%)

ADNP

Broad thumb Eyelid coloboma Small hand Thin upper lip vermilion

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder (OMIM) ADNP syndrome (ORDO)

Autosomal dominant inheritance

49
(85.1%)

FANCF

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group F (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

MAD2L2

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group V (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

FANCG

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group G (OMIM) Fanconi anemia (ORDO)

49
(85.1%)

XRCC2

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group U (OMIM) Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORDO) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

FANCM

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

spermatogenic failure 28 (OMIM) premature ovarian failure 15 (OMIM) Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORDO) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

RFWD3

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia, complementation group W (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

FANCL

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group L (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

49
(85.1%)

RAD51

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

hereditary breast carcinoma (OMIM) mirror movements 2 (OMIM) Fanconi anemia complementation group R (OMIM) Hereditary breast and ovarian cancer syndrome (ORDO) Familial congenital mirror movements (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation

49
(85.1%)

FANCB

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group B (OMIM) VACTERL association, X-linked, with or without hydrocephalus (OMIM) VACTERL with hydrocephalus (ORDO) Fanconi anemia (ORDO)

X-linked recessive inheritance Autosomal recessive inheritance

49
(85.1%)

ERCC4

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

xeroderma pigmentosum group F (OMIM) XFE progeroid syndrome (OMIM) Fanconi anemia complementation group Q (OMIM) Xeroderma pigmentosum-Cockayne syndrome complex (ORDO) Fanconi anemia (ORDO) Xeroderma pigmentosum (ORDO)

Autosomal recessive inheritance

59
(84.7%)

RPL26

Abnormal eyelid morphology Absent thumb Hypoplasia of the radius Hypoplasia of the ulna Thick lower lip vermilion

Diamond-Blackfan anemia 11 (OMIM) Blackfan-Diamond anemia (ORDO)

Autosomal dominant inheritance

60
(84.0%)

FGFRL1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM)

Autosomal dominant inheritance Sporadic

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