Total: 4312 results
60(84.0%)
WHCR
Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb
Wolf-Hirschhorn syndrome (OMIM)
Autosomal dominant inheritance Sporadic
CTBP1
Wolf-Hirschhorn syndrome (OMIM) hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (OMIM)
LETM1
Wolf-Hirschhorn syndrome (OMIM) Wolf-Hirschhorn syndrome (ORDO)
NSD2
CPLX1
Wolf-Hirschhorn syndrome (OMIM) developmental and epileptic encephalopathy, 63 (OMIM) Familial infantile myoclonic epilepsy (ORDO)
Autosomal dominant inheritance Sporadic Autosomal recessive inheritance
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
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
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
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)
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
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
72(83.9%)
CDH11
Eyelid coloboma Mandibular prognathia Thin upper lip vermilion Upper limb peromelia
Branchioskeletogenital syndrome (ORDO)
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)
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)
75(83.8%)
SCARF2
Blepharophimosis Distal ulnar hypoplasia Everted lower lip vermilion Hypoplasia of the maxilla
van den Ende-Gupta syndrome (OMIM)
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)
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)
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)
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
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)