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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
117 (81.8%)
|
EZH2
|
Epicanthus
Large hands
Long philtrum
Micrognathia
Short fourth metatarsal
Weaver syndrome (OMIM)
Weaver syndrome (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|