Total: 4312 results
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
SEMA3E
hypogonadotropic hypogonadism 7 with or without anosmia (OMIM) CHARGE syndrome (OMIM) CHARGE syndrome (ORDO)
Autosomal recessive inheritance Autosomal dominant inheritance Sporadic
CHD7
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
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)
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
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
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
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
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)
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
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
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)
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)
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
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)
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)
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
18(88.6%)
CUL7
Hypoplasia of the ulna Long philtrum Short 5th finger Short ribs Thick eyebrow
3M syndrome 1 (OMIM) 3M syndrome (ORDO)
19(88.1%)
RPS19
Cleft upper lip Epicanthus Hypoplasia of the radius Micrognathia Short thumb
Diamond-Blackfan anemia 1 (OMIM) Blackfan-Diamond anemia (ORDO)
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