1 (100.0%)
|
DHODH
|
Cleft upper lip
Eyelid coloboma
Hypoplasia of the ulna
Micrognathia
Short thumb
postaxial acrofacial dysostosis (OMIM)
Postaxial acrofacial dysostosis (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
1 (100.0%)
|
SEMA3E
|
Cleft upper lip
Eyelid coloboma
Hypoplasia of the ulna
Micrognathia
Short thumb
hypogonadotropic hypogonadism 7 with or without anosmia (OMIM)
CHARGE syndrome (OMIM)
CHARGE syndrome (ORDO)
Autosomal recessive inheritance
Autosomal dominant inheritance
Sporadic
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
1 (100.0%)
|
CHD7
|
Cleft upper lip
Eyelid coloboma
Hypoplasia of the ulna
Micrognathia
Short thumb
CHARGE syndrome (OMIM)
hypogonadotropic hypogonadism 5 with or without anosmia (OMIM)
CHARGE syndrome (ORDO)
Omenn syndrome (ORDO)
Normosmic congenital hypogonadotropic hypogonadism (ORDO)
Kallmann syndrome (ORDO)
Autosomal dominant inheritance
Sporadic
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
4 (98.7%)
|
ESCO2
|
Aplasia of the ulna
Cleft upper lip
Eyelid coloboma
Micrognathia
Short thumb
Roberts-SC phocomelia syndrome (OMIM)
SC phocomelia syndrome (OMIM)
Roberts syndrome (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
5 (96.1%)
|
SF3B4
|
Aplasia/Hypoplasia of the ulna
Cleft upper lip
Hand oligodactyly
Lower eyelid coloboma
Microretrognathia
Nager acrofacial dysostosis (OMIM)
Acrofacial dysostosis, Rodríguez type (ORDO)
Nager syndrome (ORDO)
Autosomal dominant inheritance
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
6 (92.6%)
|
FGFR1
|
Cleft upper lip
Eyelid coloboma
Micrognathia
Short metatarsal
Shortening of all middle phalanges of the fingers
Pfeiffer syndrome (OMIM)
Jackson-Weiss syndrome (OMIM)
hypogonadotropic hypogonadism 2 with or without anosmia (OMIM)
osteoglophonic dwarfism (OMIM)
trigonocephaly 1 (OMIM)
encephalocraniocutaneous lipomatosis (OMIM)
Hartsfield-Bixler-Demyer syndrome (OMIM)
Hartsfield syndrome (ORDO)
Encephalocraniocutaneous lipomatosis (ORDO)
Osteoglosphonic dysplasia (ORDO)
Microform holoprosencephaly (ORDO)
Septo-optic dysplasia spectrum (ORDO)
Isolated trigonocephaly (ORDO)
Normosmic congenital hypogonadotropic hypogonadism (ORDO)
Kallmann syndrome (ORDO)
Pfeiffer syndrome type 1 (ORDO)
Oligodontia (ORDO)
Autosomal dominant inheritance
Heterogeneous
Somatic mosaicism
Sporadic
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
7 (90.5%)
|
LRP4
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short finger
Short philtrum
Cenani-Lenz syndactyly syndrome (OMIM)
sclerosteosis 2 (OMIM)
congenital myasthenic syndrome 17 (OMIM)
Sclerosteosis (ORDO)
Cenani-Lenz syndrome (ORDO)
Postsynaptic congenital myasthenic syndromes (ORDO)
Autosomal recessive inheritance
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
7 (90.5%)
|
PDE4D
|
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short middle phalanx of finger
Thin upper lip vermilion
acrodysostosis 2 with or without hormone resistance (OMIM)
Acrodysostosis with multiple hormone resistance (ORDO)
PDE4D haploinsufficiency syndrome (ORDO)
Acrodysostosis (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
7 (90.5%)
|
CHST3
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Long philtrum
Microretrognathia
Short distal phalanx of finger
spondyloepiphyseal dysplasia with congenital joint dislocations (OMIM)
Larsen-like syndrome, B3GAT3 type (OMIM)
CHST3-related skeletal dysplasia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
7 (90.5%)
|
APC
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short thumb
Thick upper lip vermilion
hepatocellular carcinoma (OMIM)
desmoid tumor (OMIM)
familial adenomatous polyposis 1 (OMIM)
gastric cancer (OMIM)
APC-related attenuated familial adenomatous polyposis (ORDO)
Familial adenomatous polyposis due to 5q22.2 microdeletion (ORDO)
Cenani-Lenz syndrome (ORDO)
Gardner syndrome (ORDO)
Desmoid tumor (ORDO)
Turcot syndrome with polyposis (ORDO)
Heterogeneous
Somatic mutation
Autosomal dominant inheritance
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
7 (90.5%)
|
FGFR2
|
Epicanthus
Hypoplasia of the ulna
Long philtrum
Micrognathia
Shortening of all middle phalanges of the fingers
apert syndrome (OMIM)
Saethre-Chotzen syndrome (OMIM)
Pfeiffer syndrome (OMIM)
Jackson-Weiss syndrome (OMIM)
Crouzon syndrome (OMIM)
Beare-Stevenson cutis gyrata syndrome (OMIM)
LADD syndrome (OMIM)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (OMIM)
familial scaphocephaly syndrome, McGillivray type (OMIM)
gastric cancer (OMIM)
FGFR2-related bent bone dysplasia (OMIM)
Jackson-Weiss syndrome (ORDO)
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (ORDO)
Familial scaphocephaly syndrome, McGillivray type (ORDO)
Crouzon disease (ORDO)
FGFR2-related bent bone dysplasia (ORDO)
Saethre-Chotzen syndrome (ORDO)
Antley-Bixler syndrome (ORDO)
Apert syndrome (ORDO)
Pfeiffer syndrome type 1 (ORDO)
Pfeiffer syndrome type 2 (ORDO)
Pfeiffer syndrome type 3 (ORDO)
Autosomal dominant inheritance
Somatic mutation
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
12 (90.0%)
|
RIPK4
|
Absent thumb
Eyelid coloboma
Median cleft lip
Micrognathia
Short fifth metatarsal
CHAND syndrome (OMIM)
Bartsocas-Papas syndrome (OMIM)
Bartsocas-Papas syndrome (ORDO)
CHAND syndrome (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
13 (90.0%)
|
FLNB
|
Aplasia/Hypoplasia of the ulna
Cleft upper lip
Micrognathia
Short distal phalanx of finger
Telecanthus
atelosteogenesis type I (OMIM)
atelosteogenesis type III (OMIM)
Boomerang dysplasia (OMIM)
Larsen syndrome (OMIM)
spondylocarpotarsal synostosis syndrome (OMIM)
Atelosteogenesis type I (ORDO)
Boomerang dysplasia (ORDO)
Larsen syndrome (ORDO)
Atelosteogenesis type III (ORDO)
Autosomal dominant inheritance
Sporadic
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
14 (89.8%)
|
CCNQ
|
Eyelid coloboma
Hypoplasia of the radius
Thin upper lip vermilion
syndactyly-telecanthus-anogenital and renal malformations syndrome (OMIM)
Syndactyly-telecanthus-anogenital and renal malformations syndrome (ORDO)
X-linked dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
15 (89.5%)
|
SALL4
|
Epicanthus
Everted lower lip vermilion
Hypoplasia of the ulna
Micrognathia
Short distal phalanx of the thumb
IVIC syndrome (OMIM)
Duane-radial ray syndrome (OMIM)
IVIC syndrome (ORDO)
Duane retraction syndrome (ORDO)
Acro-renal-ocular syndrome (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
16 (89.4%)
|
SLC25A24
|
Micrognathia
Short distal phalanx of finger
Thin upper lip vermilion
Upper eyelid coloboma
progeroid syndrome, Petty type (OMIM)
Gorlin-Chaudhry-Moss syndrome (ORDO)
Progeroid syndrome, Petty type (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
17 (89.3%)
|
KRAS
|
Cleft upper lip
Eyelid coloboma
Micrognathia
Radioulnar synostosis
Short palm
arteriovenous malformations of the brain (OMIM)
urinary bladder cancer (OMIM)
hereditary breast carcinoma (OMIM)
hereditary diffuse gastric adenocarcinoma (OMIM)
linear nevus sebaceus syndrome (OMIM)
lung cancer (OMIM)
familial pancreatic carcinoma (OMIM)
Toriello-Lacassie-Droste syndrome (OMIM)
acute myeloid leukemia (OMIM)
Noonan syndrome 3 (OMIM)
autoimmune lymphoproliferative syndrome type 4 (OMIM)
cardiofaciocutaneous syndrome 2 (OMIM)
Familial pancreatic carcinoma (ORDO)
Cardiofaciocutaneous syndrome (ORDO)
Lynch syndrome (ORDO)
Encephalocraniocutaneous lipomatosis (ORDO)
Linear nevus sebaceus syndrome (ORDO)
Toriello-Lacassie-Droste syndrome (ORDO)
Noonan syndrome (ORDO)
Somatic mutation
Autosomal dominant inheritance
Somatic mosaicism
Sporadic
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
18 (88.6%)
|
CUL7
|
Hypoplasia of the ulna
Long philtrum
Short 5th finger
Short ribs
Thick eyebrow
3M syndrome 1 (OMIM)
3M syndrome (ORDO)
Autosomal recessive inheritance
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
19 (88.1%)
|
RPS19
|
Cleft upper lip
Epicanthus
Hypoplasia of the radius
Micrognathia
Short thumb
Diamond-Blackfan anemia 1 (OMIM)
Blackfan-Diamond anemia (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
19 (88.1%)
|
NIPBL
|
Blepharitis
Cleft upper lip
Hypoplasia of the radius
Micrognathia
Short 1st metacarpal
Cornelia de Lange syndrome 1 (OMIM)
Cornelia de Lange syndrome (ORDO)
Autosomal dominant inheritance
Sporadic
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
21 (87.9%)
|
BRCA1
|
Aplasia/Hypoplasia of fingers
Epicanthus
Hypoplasia of the ulna
Micrognathia
Thick upper lip vermilion
hereditary breast carcinoma (OMIM)
breast-ovarian cancer, familial, susceptibility to, 1 (OMIM)
Fanconi anemia, complementation group S (OMIM)
Familial pancreatic carcinoma (ORDO)
Hereditary breast and ovarian cancer syndrome (ORDO)
Primary peritoneal carcinoma (ORDO)
Fanconi anemia (ORDO)
Autosomal dominant inheritance
Somatic mutation
Multifactorial inheritance
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
22 (87.9%)
|
DYNC2H1
|
Cleft upper lip
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short palm
asphyxiating thoracic dystrophy 3 (OMIM)
Jeune syndrome (ORDO)
Short rib-polydactyly syndrome, Verma-Naumoff type (ORDO)
Autosomal recessive inheritance
Digenic inheritanec
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
23 (87.7%)
|
TWIST1
|
Brachydactyly
Micrognathia
Radioulnar synostosis
Short philtrum
Upper eyelid coloboma
Saethre-Chotzen syndrome (OMIM)
TWIST1-related craniosynostosis (OMIM)
Robinow-Sorauf syndrome (OMIM)
Sweeney-Cox syndrome (OMIM)
Isolated scaphocephaly (ORDO)
Isolated plagiocephaly (ORDO)
Isolated brachycephaly (ORDO)
Saethre-Chotzen syndrome (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
UBE2T
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group T (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
SLX4
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group P (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
BRIP1
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
hereditary breast carcinoma (OMIM)
Fanconi anemia complementation group J (OMIM)
Hereditary breast and ovarian cancer syndrome (ORDO)
Fanconi anemia (ORDO)
Autosomal dominant inheritance
Somatic mutation
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
RAD51C
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group O (OMIM)
breast-ovarian cancer, familial, susceptibility to, 3 (OMIM)
Hereditary breast and ovarian cancer syndrome (ORDO)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
FANCC
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group C (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
FANCD2
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group D2 (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
FANCA
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group A (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
FANCE
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Fanconi anemia complementation group E (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
FANCI
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short 1st metacarpal
Fanconi anemia complementation group I (OMIM)
Fanconi anemia (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
PALB2
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
hereditary breast carcinoma (OMIM)
Fanconi anemia complementation group N (OMIM)
Familial pancreatic carcinoma (ORDO)
Hereditary breast and ovarian cancer syndrome (ORDO)
Fanconi anemia (ORDO)
Autosomal dominant inheritance
Somatic mutation
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
BRCA2
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
hereditary breast carcinoma (OMIM)
medulloblastoma (OMIM)
familial prostate carcinoma (OMIM)
Wilms tumor 1 (OMIM)
Fanconi anemia complementation group D1 (OMIM)
breast-ovarian cancer, familial, susceptibility to, 2 (OMIM)
glioma susceptibility 3 (OMIM)
pancreatic cancer, susceptibility to, 2 (OMIM)
Familial pancreatic carcinoma (ORDO)
Hereditary breast and ovarian cancer syndrome (ORDO)
Nephroblastoma (ORDO)
Fanconi anemia (ORDO)
Autosomal dominant inheritance
Somatic mutation
Autosomal recessive inheritance
Heterogeneous
Multifactorial inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
24 (87.7%)
|
RECQL4
|
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Short thumb
Baller-Gerold syndrome (OMIM)
rapadilino syndrome (OMIM)
Rothmund-Thomson syndrome type 2 (OMIM)
Baller-Gerold syndrome (ORDO)
Rothmund-Thomson syndrome type 2 (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
36 (87.7%)
|
FGFR3
|
Aplasia/Hypoplasia of the mandible
Cleft palate
Epicanthus
Hypoplasia of the ulna
Short middle phalanx of finger
achondroplasia (OMIM)
urinary bladder cancer (OMIM)
hypochondroplasia (OMIM)
LADD syndrome (OMIM)
nevus, epidermal (OMIM)
thanatophoric dysplasia type 1 (OMIM)
thanatophoric dysplasia type 2 (OMIM)
testicular germ cell tumor (OMIM)
Muenke syndrome (OMIM)
cervical cancer (OMIM)
camptodactyly-tall stature-scoliosis-hearing loss syndrome (OMIM)
Crouzon syndrome-acanthosis nigricans syndrome (OMIM)
severe achondroplasia-developmental delay-acanthosis nigricans syndrome (OMIM)
Achondroplasia (ORDO)
Thanatophoric dysplasia type 1 (ORDO)
Isolated plagiocephaly (ORDO)
Isolated brachycephaly (ORDO)
Hypochondroplasia (ORDO)
Muenke syndrome (ORDO)
Saethre-Chotzen syndrome (ORDO)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome (ORDO)
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome (ORDO)
Crouzon syndrome-acanthosis nigricans syndrome (ORDO)
Thanatophoric dysplasia type 2 (ORDO)
Autosomal dominant inheritance
Somatic mutation
Somatic mosaicism
Sporadic
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
37 (87.3%)
|
JAG1
|
Hypoplasia of the ulna
Short distal phalanx of finger
Thin vermilion border
Upslanted palpebral fissure
Alagille syndrome due to a JAG1 point mutation (OMIM)
tetralogy of fallot (OMIM)
Tetralogy of Fallot (ORDO)
Autosomal dominant inheritance
Multifactorial inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
38 (87.3%)
|
PSMD12
|
Downslanted palpebral fissures
Micrognathia
Short thumb
Thin upper lip vermilion
Upper limb undergrowth
Stankiewicz-Isidor syndrome (OMIM)
17q24.2 microdeletion syndrome (ORDO)
Autosomal dominant inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
38 (87.3%)
|
SLC26A2
|
Epicanthus
Micrognathia
Short middle phalanx of finger
Thin upper lip vermilion
Upper limb undergrowth
diastrophic dysplasia (OMIM)
multiple epiphyseal dysplasia type 4 (OMIM)
atelosteogenesis type II (OMIM)
achondrogenesis type IB (OMIM)
Atelosteogenesis type II (ORDO)
Diastrophic dwarfism (ORDO)
Achondrogenesis type 1B (ORDO)
Multiple epiphyseal dysplasia type 4 (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|
40 (87.1%)
|
FRAS1
|
Aplasia/Hypoplasia of the sternum
Aplasia/Hypoplasia of the thumb
Cleft upper lip
Upper eyelid coloboma
Fraser syndrome 1 (OMIM)
Fraser syndrome (ORDO)
Autosomal recessive inheritance
NCBI Gene
HGMD
ClinVar
TogoVar
LitVar
PubTator
DGIdb
|