120
(81.8%)

NALCN

Aplasia/Hypoplasia of the radius Downslanted palpebral fissures Micrognathia Overlapping fingers Thin upper lip vermilion

hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (OMIM) congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM) Digitotalar dysmorphism (ORDO) Sheldon-Hall syndrome (ORDO) Freeman-Sheldon syndrome (ORDO) Hypotonia-speech impairment-severe cognitive delay syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

120
(81.8%)

MYH3

Aplasia/Hypoplasia of the radius Epicanthus Long philtrum Micrognathia Overlapping fingers

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (OMIM) freeman-Sheldon syndrome (OMIM) arthrogryposis, distal, type 2B3 (OMIM) contractures, pterygia, and variable skeletal fusions syndrome 1B (OMIM) Digitotalar dysmorphism (ORDO) Sheldon-Hall syndrome (ORDO) Freeman-Sheldon syndrome (ORDO) Autosomal recessive multiple pterygium syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

123
(81.7%)

GRIP1

Cleft upper lip Cryptophthalmos Micrognathia Short toe

Fraser syndrome 3 (OMIM) Fraser syndrome (ORDO)

Autosomal recessive inheritance

124
(81.7%)

BMP2

11 pairs of ribs Epicanthus Short 2nd metacarpal Short middle phalanx of the 5th finger Thin upper lip vermilion

brachydactyly type A2 (OMIM) hemochromatosis type 1 (OMIM) short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (OMIM) 20p12.3 microdeletion syndrome (ORDO) Brachydactyly type A2 (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

125
(81.6%)

IFT122

Epicanthus Everted lower lip vermilion Fibular hypoplasia Short distal phalanx of finger Short ribs

cranioectodermal dysplasia 1 (OMIM) Cranioectodermal dysplasia (ORDO)

Autosomal recessive inheritance

126
(81.5%)

GPC3

Broad thumb Cleft upper lip Epicanthus Mandibular prognathia Short 2nd finger

Wilms tumor 1 (OMIM) Simpson-Golabi-Behmel syndrome type 1 (OMIM) Simpson-Golabi-Behmel syndrome (ORDO) Nephroblastoma (ORDO)

Autosomal dominant inheritance Heterogeneous Somatic mutation X-linked recessive inheritance

126
(81.5%)

GPC4

Broad distal phalanx of finger Cleft upper lip Epicanthus Mandibular prognathia Short 2nd finger

Wilms tumor 1 (OMIM) Keipert syndrome (OMIM) Simpson-Golabi-Behmel syndrome type 1 (OMIM) Keipert syndrome (ORDO) Simpson-Golabi-Behmel syndrome (ORDO)

Autosomal dominant inheritance Heterogeneous Somatic mutation X-linked recessive inheritance

128
(81.5%)

NELFA

Cleft upper lip Epicanthus Micrognathia Short thumb

Wolf-Hirschhorn syndrome (ORDO)

Autosomal dominant inheritance Sporadic

128
(81.5%)

PIGV

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

hyperphosphatasia with intellectual disability syndrome 1 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance

128
(81.5%)

TFAP2A

Cleft upper lip Micrognathia Short thumb Telecanthus

branchiooculofacial syndrome (OMIM) Branchio-oculo-facial syndrome (ORDO)

Autosomal dominant inheritance

128
(81.5%)

IQSEC2

Cleft upper lip Downslanted palpebral fissures Micrognathia Shortening of all distal phalanges of the fingers

intellectual disability, X-linked 1 (OMIM) Microduplication Xp11.22p11.23 syndrome (ORDO) Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORDO) X-linked non-syndromic intellectual disability (ORDO) Smith-Magenis syndrome (ORDO)

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

128
(81.5%)

PIGN

Epicanthus Median cleft lip Microretrognathia Proportionate shortening of all digits Short distal phalanx of finger

multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM) Fryns syndrome (ORDO) Multiple congenital anomalies-hypotonia-seizures syndrome (ORDO)

Autosomal recessive inheritance

128
(81.5%)

GJA1

Epicanthus Median cleft lip Micrognathia Short middle phalanx of the 5th finger

autosomal dominant palmoplantar keratoderma and congenital alopecia (OMIM) oculodentodigital dysplasia (OMIM) syndactyly type 3 (OMIM) craniometaphyseal dysplasia, autosomal recessive (OMIM) hypoplastic left heart syndrome 1 (OMIM) oculodentodigital dysplasia, autosomal recessive (OMIM) atrioventricular septal defect 3 (OMIM) erythrokeratodermia variabilis et progressiva 3 (OMIM) Autosomal dominant palmoplantar keratoderma and congenital alopecia (ORDO) Craniometaphyseal dysplasia (ORDO) Hypoplastic left heart syndrome (ORDO) Oculodentodigital dysplasia (ORDO) Erythrokeratodermia variabilis (ORDO) Syndactyly type 3 (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Multifactorial inheritance

134
(81.4%)

LBR

Keratoconjunctivitis sicca Lip telangiectasia Micrognathia Short 3rd metacarpal Upper limb undergrowth

Pelger-Huet anomaly (OMIM) Greenberg dysplasia (OMIM) Reynolds syndrome (OMIM) Greenberg dysplasia (ORDO) Reynolds syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

135
(81.4%)

TAPT1

Fractured radius Micrognathia Short femur Telecanthus Unilateral cleft lip

complex lethal osteochondrodysplasia (OMIM)

Autosomal recessive inheritance

136
(81.3%)

SMOC1

Cleft upper lip Downslanted palpebral fissures Fibular hypoplasia Hand oligodactyly Micrognathia

microphthalmia with limb anomalies (OMIM) Microphthalmia with limb anomalies (ORDO)

Autosomal recessive inheritance

136
(81.3%)

NEK1

Adactyly Median cleft lip Micrognathia Short tibia Telecanthus

short-rib thoracic dysplasia 6 with or without polydactyly (OMIM) amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM) Orofaciodigital syndrome type 2 (ORDO) Amyotrophic lateral sclerosis (ORDO)

Autosomal recessive inheritance Digenic inheritanec Autosomal dominant inheritance

138
(81.3%)

CHRNG

Dislocated radial head Epicanthus Long philtrum Micrognathia Short finger

lethal multiple pterygium syndrome (OMIM) autosomal recessive multiple pterygium syndrome (OMIM) Autosomal recessive multiple pterygium syndrome (ORDO)

Autosomal recessive inheritance

138
(81.3%)

NOTCH2

Dislocated radial head Epicanthus Long philtrum Micrognathia Short distal phalanx of finger

acroosteolysis dominant type (OMIM) Alagille syndrome due to a NOTCH2 point mutation (OMIM) Acroosteolysis dominant type (ORDO)

Autosomal dominant inheritance

138
(81.3%)

ARID1B

Dislocated radial head Epicanthus Micrognathia Short distal phalanx of the 5th finger Thin upper lip vermilion

Coffin-Siris syndrome (ORDO) 6q25 microdeletion syndrome (ORDO)

141
(81.2%)

PRKAR1A

Absent/hypoplastic paranasal sinuses Epicanthus Hypoplasia of the ulna Open mouth Short palm

acrodysostosis 1 with or without hormone resistance (OMIM) Carney complex, type 1 (OMIM) familial atrial myxoma (OMIM) pigmented nodular adrenocortical disease, primary, 1 (OMIM) Carney complex (ORDO) Primary pigmented nodular adrenocortical disease (ORDO) Acrodysostosis with multiple hormone resistance (ORDO) Acute promyelocytic leukemia (ORDO) Familial atrial myxoma (ORDO) Acrodysostosis (ORDO)

Autosomal dominant inheritance Heterogeneous Somatic mutation

142
(81.1%)

CWC27

Downslanted palpebral fissures Micrognathia Short distal phalanx of finger Short metacarpal Thick vermilion border

metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (OMIM)

Autosomal recessive inheritance

143
(81.1%)

DONSON

Cleft palate Hypoplasia of the radius Micrognathia Short metacarpal Upslanted palpebral fissure

microcephaly-micromelia syndrome (OMIM) microcephaly, short stature, and limb abnormalities (OMIM)

Autosomal recessive inheritance

144
(81.0%)

FGD1

Cleft upper lip Epicanthus Hypoplasia of the odontoid process Short 5th finger Short palm

Aarskog-Scott syndrome, X-linked (OMIM) Aarskog-Scott syndrome (ORDO)

X-linked recessive inheritance

145
(80.9%)

IFT43

Epicanthus Micrognathia Micromelia Short distal phalanx of finger Thin upper lip vermilion

cranioectodermal dysplasia 3 (OMIM) short-rib thoracic dysplasia 18 with polydactyly (OMIM) retinitis pigmentosa 81 (OMIM) Cranioectodermal dysplasia (ORDO)

Autosomal recessive inheritance

145
(80.9%)

PIGY

Broad philtrum Epicanthus Limb undergrowth Micrognathia Shortening of all distal phalanges of the fingers

hyperphosphatasia with intellectual disability syndrome 6 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance

147
(80.9%)

LMX1B

Cleft upper lip Elongated radius Hypoplasia of first ribs Patellar hypoplasia Telecanthus

nail-patella syndrome (OMIM) Nail-patella-like renal disease (ORDO) Nail-patella syndrome (ORDO) 9q33.3q34.11 microdeletion syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

148
(80.8%)

SUZ12

Broad thumb Downslanted palpebral fissures Large hands Long philtrum Micrognathia

Weaver syndrome (ORDO)

Autosomal dominant inheritance

148
(80.8%)

EED

Broad thumb Epicanthus Large hands Long philtrum Micrognathia

Cohen-Gibson syndrome (OMIM) Weaver syndrome (ORDO)

Autosomal dominant inheritance

148
(80.8%)

NSD1

Broad thumb Downslanted palpebral fissures Large hands Long philtrum Micrognathia

Sotos syndrome 1 (OMIM) 5q35 microduplication syndrome (ORDO) Weaver syndrome (ORDO) Sotos syndrome (ORDO)

Autosomal dominant inheritance Sporadic

151
(80.8%)

MEIS2

Broad thumb Cleft upper lip Short 5th finger Upslanted palpebral fissure

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies (OMIM) 15q14 microdeletion syndrome (ORDO)

Autosomal dominant inheritance

152
(80.7%)

RPS6KA3

Epicanthus Mandibular prognathia Short metacarpal Shortening of all distal phalanges of the fingers Thin upper lip vermilion

intellectual disability, X-linked 19 (OMIM) Coffin-Lowry syndrome (OMIM) Coffin-Lowry syndrome (ORDO) Symptomatic form of Coffin-Lowry syndrome in female carriers (ORDO) X-linked non-syndromic intellectual disability (ORDO)

X-linked inheritance X-linked dominant inheritance Sporadic

153
(80.7%)

KDM5C

Micrognathia Short distal phalanx of finger Short palm Thin upper lip vermilion Upslanted palpebral fissure

syndromic X-linked intellectual disability Claes-Jensen type (OMIM) Syndromic X-linked intellectual disability due to JARID1C mutation (ORDO)

X-linked recessive inheritance

153
(80.7%)

MCTP2

Blepharophimosis Micrognathia Short distal phalanx of finger Thin upper lip vermilion

Distal monosomy 15q (ORDO)

Sporadic

153
(80.7%)

EDA

Absent eyelashes Everted upper lip vermilion Micrognathia Short distal phalanx of finger

X-linked hypohidrotic ectodermal dysplasia (OMIM) tooth agenesis, selective, X-linked, 1 (OMIM) X-linked hypohidrotic ectodermal dysplasia (ORDO) Oligodontia (ORDO)

X-linked recessive inheritance Heterogeneous X-linked dominant inheritance

153
(80.7%)

PIGW

Broad philtrum Epicanthus Micrognathia Shortening of all distal phalanges of the fingers

hyperphosphatasia with intellectual disability syndrome 5 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance

153
(80.7%)

PGAP3

Epicanthus Micrognathia Shortening of all distal phalanges of the fingers Thin upper lip vermilion

hyperphosphatasia with intellectual disability syndrome 4 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance

153
(80.7%)

PGAP2

Broad philtrum Epicanthus Micrognathia Shortening of all distal phalanges of the fingers

hyperphosphatasia with intellectual disability syndrome 3 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance

153
(80.7%)

UPF3B

Downslanted palpebral fissures Micrognathia Shortening of all distal phalanges of the fingers Thin upper lip vermilion

syndromic X-linked intellectual disability 14 (OMIM) X-linked intellectual disability with marfanoid habitus (ORDO) X-linked non-syndromic intellectual disability (ORDO)

X-linked recessive inheritance

153
(80.7%)

PIGO

Broad philtrum Epicanthus Micrognathia Shortening of all distal phalanges of the fingers

hyperphosphatasia with intellectual disability syndrome 2 (OMIM) Hyperphosphatasia-intellectual disability syndrome (ORDO)

Autosomal recessive inheritance