Total: 4312 results
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
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
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)
HDAC8
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
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)
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
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)
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)
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
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)
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)
DVL1
autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 2 (OMIM) Autosomal dominant Robinow syndrome (ORDO)
DVL3
autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 3 (OMIM) Autosomal dominant Robinow syndrome (ORDO)
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
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)