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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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)
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
60 (84.0%)
|
FGFRL1
|
Cleft upper lip
Epicanthus
Micrognathia
Radioulnar synostosis
Short thumb
Wolf-Hirschhorn syndrome (OMIM)
Autosomal dominant inheritance
Sporadic
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
60 (84.0%)
|
WHCR
|
Cleft upper lip
Epicanthus
Micrognathia
Radioulnar synostosis
Short thumb
Wolf-Hirschhorn syndrome (OMIM)
Autosomal dominant inheritance
Sporadic
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
72 (83.9%)
|
CDH11
|
Eyelid coloboma
Mandibular prognathia
Thin upper lip vermilion
Upper limb peromelia
Branchioskeletogenital syndrome (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
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
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|