81
(83.2%)

RAD21

Blepharitis Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Mungan syndrome (OMIM) Cornelia de Lange syndrome 4 (OMIM) Cornelia de Lange syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

81
(83.2%)

SMC3

Blepharitis Micrognathia Radioulnar synostosis Short 5th finger Thin upper lip vermilion

Cornelia de Lange syndrome 3 (OMIM) Cornelia de Lange syndrome (ORDO)

Autosomal dominant inheritance

81
(83.2%)

SETD5

Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (OMIM) Cornelia de Lange syndrome (ORDO) Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (ORDO)

Autosomal dominant inheritance

81
(83.2%)

HDAC8

Blepharitis Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Cornelia de Lange syndrome 5 (OMIM) Cornelia de Lange syndrome (ORDO) Wilson-Turner syndrome (ORDO)

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

81
(83.2%)

SETBP1

Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short distal phalanx of finger Thin upper lip vermilion

Schinzel-Giedion syndrome (OMIM) intellectual disability, autosomal dominant 29 (OMIM) Intellectual disability-expressive aphasia-facial dysmorphism syndrome (ORDO) Schinzel-Giedion syndrome (ORDO)

Autosomal dominant inheritance

81
(83.2%)

KMT2A

Epicanthus Micrognathia Radioulnar synostosis Short middle phalanx of finger Thin upper lip vermilion

Wiedemann-Steiner syndrome (OMIM) Cornelia de Lange syndrome (ORDO) Wiedemann-Steiner syndrome (ORDO)

Autosomal dominant inheritance X-linked recessive inheritance

81
(83.2%)

SMC1A

Epicanthus Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Cornelia de Lange syndrome 2 (OMIM) Cornelia de Lange syndrome (ORDO) Wiedemann-Steiner syndrome (ORDO)

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

88
(83.1%)

TRPS1

Micrognathia Short finger Short metatarsal Sparse eyelashes Thin upper lip vermilion

trichorhinophalangeal syndrome type I (OMIM) trichorhinophalangeal syndrome, type III (OMIM) Trichorhinophalangeal syndrome type 2 (ORDO) Trichorhinophalangeal syndrome type 1 and 3 (ORDO)

Autosomal dominant inheritance

88
(83.1%)

MAP3K7

Downslanted palpebral fissures Micrognathia Short distal phalanx of the thumb Short metatarsal Short philtrum

cardiospondylocarpofacial syndrome (OMIM) frontometaphyseal dysplasia 2 (OMIM) Frontometaphyseal dysplasia (ORDO) Cardiospondylocarpofacial syndrome (ORDO)

Autosomal dominant inheritance

88
(83.1%)

ROR2

Epicanthus Micrognathia Short long bone Short middle phalanx of the 5th finger Thin upper lip vermilion

brachydactyly type B1 (OMIM) autosomal recessive Robinow syndrome (OMIM) Autosomal recessive Robinow syndrome (ORDO) Brachydactyly type B (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

88
(83.1%)

PUF60

Epicanthus Microretrognathia Short femur Short middle phalanx of the 5th finger Thin upper lip vermilion

8q24.3 microdeletion syndrome (OMIM) 8q24.3 microdeletion syndrome (ORDO) Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome (ORDO)

Autosomal dominant inheritance

88
(83.1%)

FBN1

Downslanted palpebral fissures Micrognathia Short long bone Short thumb Thin upper lip vermilion

acromicric dysplasia (OMIM) ectopia lentis 1, isolated, autosomal dominant (OMIM) Marfan syndrome (OMIM) stiff skin syndrome (OMIM) MASS syndrome (OMIM) glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome (OMIM) Geleophysic dysplasia 2 (OMIM) progeroid and marfanoid aspect-lipodystrophy syndrome (OMIM) Isolated ectopia lentis (ORDO) Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORDO) Shprintzen-Goldberg syndrome (ORDO) Stiff skin syndrome (ORDO) Neonatal Marfan syndrome (ORDO) Weill-Marchesani syndrome (ORDO) Familial thoracic aortic aneurysm and aortic dissection (ORDO) Acromicric dysplasia (ORDO)

Autosomal dominant inheritance Sporadic

93
(83.1%)

DHCR7

Aplasia/Hypoplasia of the radius Epicanthus Long philtrum Micrognathia Short thumb

Smith-Lemli-Opitz syndrome (OMIM) Smith-Lemli-Opitz syndrome (ORDO)

Autosomal recessive inheritance

94
(83.0%)

WNT5A

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

DVL1

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 2 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

DVL3

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 3 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

MED12

Broad thumb Cleft upper lip Epicanthus Micrognathia Shortening of all distal phalanges of the fingers

blepharophimosis - intellectual disability syndrome, MKB type (OMIM) FG syndrome 1 (OMIM) X-linked intellectual disability with marfanoid habitus (OMIM) Blepharophimosis-intellectual disability syndrome, MKB type (ORDO) X-linked intellectual disability with marfanoid habitus (ORDO) X-linked non-syndromic intellectual disability (ORDO) FG syndrome type 1 (ORDO)

X-linked recessive inheritance

94
(83.0%)

OFD1

Central Y-shaped metacarpal Epicanthus Median cleft lip Microretrognathia Short finger

Simpson-Golabi-Behmel syndrome type 2 (OMIM) retinitis pigmentosa 23 (OMIM) Joubert syndrome 10 (OMIM) orofaciodigital syndrome I (OMIM) Primary ciliary dyskinesia (ORDO) Orofaciodigital syndrome type 1 (ORDO) Orofaciodigital syndrome type 6 (ORDO) Retinitis pigmentosa (ORDO)

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

99
(82.9%)

GLI3

Aplasia of the 2nd metacarpal Downslanted palpebral fissures Median cleft lip Microretrognathia Radial bowing

Pallister-hall syndrome (OMIM) polydactyly, postaxial, type A1 (OMIM) polysyndactyly 4 (OMIM) Greig cephalopolysyndactyly syndrome (OMIM) congenital hypothalamic hamartoma syndrome (OMIM) Acrocallosal syndrome (ORDO) Greig cephalopolysyndactyly syndrome (ORDO) Pallister-Hall syndrome (ORDO) Tibial hemimelia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

100
(82.8%)

CCDC8

Hypoplasia of the ulna Long philtrum Micromelia Thick eyebrow

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

Autosomal recessive inheritance Autosomal dominant inheritance

101
(82.8%)

TBX5

Absent thumb Hypoplasia of the ulna Pectus excavatum Short clavicles

Holt-Oram syndrome (OMIM) Holt-Oram syndrome (ORDO)

Autosomal dominant inheritance

102
(82.7%)

TBX3

Hypodontia Hypoplasia of the ulna Hypoplastic scapulae Short distal phalanx of finger Sparse lateral eyebrow

ulnar-mammary syndrome (OMIM) Ulnar-mammary syndrome (ORDO)

Autosomal dominant inheritance

103
(82.5%)

HYLS1

Highly arched eyebrow Median cleft lip Micrognathia Upper limb undergrowth

hydrolethalus syndrome 1 (OMIM) Hydrolethalus (ORDO) Joubert syndrome (ORDO)

Autosomal recessive inheritance

104
(82.5%)

SMAD4

Blepharophimosis Retrognathia Short finger Short long bone Unilateral cleft lip

Myhre syndrome (OMIM) generalized juvenile polyposis/juvenile polyposis coli (OMIM) juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (OMIM) familial pancreatic carcinoma (OMIM) Familial pancreatic carcinoma (ORDO) Myhre syndrome (ORDO) Generalized juvenile polyposis/juvenile polyposis coli (ORDO) Hereditary hemorrhagic telangiectasia (ORDO) Familial thoracic aortic aneurysm and aortic dissection (ORDO)

Autosomal dominant inheritance Somatic mutation

105
(82.4%)

PTCH2

Cleft upper lip Epicanthus Short 4th metacarpal Short distal phalanx of the thumb Short ribs

nevoid basal cell carcinoma syndrome (OMIM) medulloblastoma (OMIM) basal cell carcinoma, susceptibility to, 1 (OMIM) Gorlin syndrome (ORDO)

Autosomal dominant inheritance Heterogeneous Autosomal recessive inheritance Somatic mutation

105
(82.4%)

PTCH1

Cleft upper lip Epicanthus Short 4th metacarpal Short distal phalanx of the thumb Short ribs

nevoid basal cell carcinoma syndrome (OMIM) basal cell carcinoma, susceptibility to, 1 (OMIM) holoprosencephaly 7 (OMIM) Microform holoprosencephaly (ORDO) Gorlin syndrome (ORDO) Monosomy 9q22.3 (ORDO)

Autosomal dominant inheritance Heterogeneous

105
(82.4%)

SUFU

Cleft upper lip Epicanthus Short 4th metacarpal Short distal phalanx of the thumb Short ribs

nevoid basal cell carcinoma syndrome (OMIM) medulloblastoma (OMIM) familial meningioma (OMIM) Joubert syndrome 32 (OMIM) Meningioma (ORDO) Microform holoprosencephaly (ORDO) Acrocallosal syndrome (ORDO) Gorlin syndrome (ORDO)

Autosomal dominant inheritance Heterogeneous Autosomal recessive inheritance Somatic mutation

108
(82.4%)

BHLHA9

Aplasia/Hypoplasia of the ulna Fibular hypoplasia Overfolded helix Short thumb

Camptosynpolydactyly, complex (OMIM) mesoaxial synostotic syndactyly with phalangeal reduction (OMIM) Mesoaxial synostotic syndactyly with phalangeal reduction (ORDO) Gollop-Wolfgang complex (ORDO) Tibial aplasia-ectrodactyly syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

109
(82.2%)

VAC14

Aplasia of the 1st metacarpal Micrognathia Short middle phalanx of finger Short upper lip Upslanted palpebral fissure

striatonigral degeneration, childhood-onset (OMIM) Yunis-Varon syndrome (ORDO)

Autosomal recessive inheritance

109
(82.2%)

NXN

Broad thumb Epicanthus Micrognathia Short distal phalanx of finger Short philtrum

robinow syndrome, autosomal recessive 2 (OMIM) Autosomal recessive Robinow syndrome (ORDO)

Autosomal recessive inheritance

109
(82.2%)

KCNH1

Broad thumb Epicanthus Long philtrum Micrognathia Short phalanx of the thumb

Zimmermann-Laband syndrome 1 (OMIM) Temple-Baraitser syndrome (OMIM) Zimmermann-Laband syndrome (ORDO) Temple-Baraitser syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

109
(82.2%)

NFIX

Distal widening of metacarpals Epicanthus Micrognathia Short distal phalanx of finger Short philtrum

Marshall-Smith syndrome (OMIM) Malan overgrowth syndrome (OMIM) Malan overgrowth syndrome (ORDO) 19p13.3 microduplication syndrome (ORDO) Marshall-Smith syndrome (ORDO)

Autosomal dominant inheritance Sporadic

109
(82.2%)

FIG4

Aplasia of the 1st metacarpal Micrognathia Short middle phalanx of finger Short upper lip Upslanted palpebral fissure

Yunis-Varon syndrome (OMIM) Charcot-Marie-Tooth disease type 4J (OMIM) amyotrophic lateral sclerosis type 11 (OMIM) bilateral parasagittal parieto-occipital polymicrogyria (OMIM) Yunis-Varon syndrome (ORDO) Amyotrophic lateral sclerosis (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

114
(82.1%)

RAB3GAP2

Epicanthus Micrognathia Short palm Short philtrum Slender ulna

cataract-intellectual disability-hypogonadism syndrome (OMIM) Warburg micro syndrome 2 (OMIM) Cataract-intellectual disability-hypogonadism syndrome (ORDO) Micro syndrome (ORDO) Autosomal recessive spastic paraplegia type 69 (ORDO)

Autosomal recessive inheritance

114
(82.1%)

COL11A1

Epicanthus Micrognathia Radial bowing Short palm Thick upper lip vermilion

Marshall syndrome (OMIM) fibrochondrogenesis 1 (OMIM) Stickler syndrome type 2 (OMIM) Fibrochondrogenesis (ORDO) Autosomal recessive Stickler syndrome (ORDO) Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome (ORDO) Marshall syndrome (ORDO) Stickler syndrome type 2 (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

116
(81.8%)

MASP1

Cleft upper lip Downslanted palpebral fissures Radioulnar synostosis Short 5th finger Short foot

3MC syndrome 1 (OMIM) 3MC syndrome (ORDO)

Autosomal recessive inheritance

117
(81.8%)

EZH2

Epicanthus Large hands Long philtrum Micrognathia Short fourth metatarsal

Weaver syndrome (OMIM) Weaver syndrome (ORDO)

Autosomal dominant inheritance

117
(81.8%)

RNU4ATAC

Downslanted palpebral fissures Large hands Micrognathia Short femur Thin upper lip vermilion

microcephalic osteodysplastic primordial dwarfism type I (OMIM) Roifman syndrome (OMIM) Lowry-Wood syndrome (ORDO) Microcephalic osteodysplastic primordial dwarfism types I and III (ORDO) Roifman syndrome (ORDO)

Autosomal recessive inheritance X-linked recessive inheritance

117
(81.8%)

POLR3A

Downslanted palpebral fissures Large hands Micrognathia Short femur Thin upper lip vermilion

Wiedemann-Rautenstrauch syndrome (OMIM) leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome (OMIM) Wiedemann-Rautenstrauch syndrome (ORDO) Tremor-ataxia-central hypomyelination syndrome (ORDO) Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome (ORDO)

Autosomal recessive inheritance

120
(81.8%)

TNNI2

Aplasia/Hypoplasia of the radius Downslanted palpebral fissures Long philtrum Micrognathia Overlapping fingers

distal arthrogryposis type 2B1 (OMIM) Digitotalar dysmorphism (ORDO) Sheldon-Hall syndrome (ORDO)

Autosomal dominant inheritance