298 (69.3%)
|
DECIPHER:1878
|
Epicanthus
High palate
Short foot
Short palm
|
298 (69.3%)
|
DECIPHER:248692
|
Abnormality of the tongue
Short foot
Short palm
Upslanted palpebral fissure
|
303 (69.3%)
|
MyGene2:792
|
High, narrow palate
Hypoplasia of the odontoid process
Shallow orbits
Short palm
|
304 (69.3%)
|
DECIPHER:287131
|
Abnormal size of the palpebral fissures
Short 4th metacarpal
|
304 (69.3%)
|
DECIPHER:259342
|
Abnormal size of the palpebral fissures
Prominent nose
Short 4th metacarpal
|
304 (69.3%)
|
DECIPHER:266216
|
Short 5th metacarpal
Upslanted palpebral fissure
|
304 (69.3%)
|
DECIPHER:304157
|
Broad thumb
Epicanthus
Short foot
Short palm
|
304 (69.3%)
|
DECIPHER:263881
|
Round face
Short 4th metacarpal
Short foot
Short palm
Upslanted palpebral fissure
|
309 (69.2%)
|
MyGene2:75
|
Bifid nasal tip
Hypoplasia of the radius
|
310 (69.2%)
|
DECIPHER:266275
|
Depressed nasal bridge
Upper limb undergrowth
|
311 (69.1%)
|
DECIPHER:257182
|
Blepharophimosis
Micrognathia
Narrow palate
Short foot
|
312 (69.1%)
|
DECIPHER:254758
|
Downslanted palpebral fissures
Large hands
Long face
Micrognathia
|
313 (69.1%)
|
DECIPHER:4092
|
Cleft palate
Hand clenching
Micrognathia
|
313 (69.1%)
|
UDN:046
|
Cleft palate
Micrognathia
Overlapping fingers
|
315 (69.1%)
|
DECIPHER:325601
|
Abnormality of the hand
Abnormality of the philtrum
Epicanthus
Mandibular prognathia
|
316 (69.1%)
|
DECIPHER:248409
|
Epicanthus
Micrognathia
Radioulnar synostosis
Single transverse palmar crease
|
317 (69.1%)
|
DECIPHER:263310
|
Bilateral single transverse palmar creases
Cleft palate
Micrognathia
Radioulnar synostosis
|
318 (69.1%)
|
DECIPHER:262636
|
Brachydactyly
Micrognathia
Thick upper lip vermilion
|
319 (69.1%)
|
DECIPHER:256835
|
Short hallux
Short philtrum
|
319 (69.1%)
|
DECIPHER:1387
|
Short philtrum
Short toe
|
319 (69.1%)
|
DECIPHER:280216
|
Short toe
Smooth philtrum
|
319 (69.1%)
|
DECIPHER:275340
|
Short toe
Smooth philtrum
Wide mouth
|
319 (69.1%)
|
DECIPHER:249428
|
Open mouth
Short toe
Thin upper lip vermilion
|
324 (69.1%)
|
DECIPHER:322751
|
Intellectual disability
Short 4th metacarpal
Short third metatarsal
|
324 (69.1%)
|
DECIPHER:317160
|
Aplasia/Hypoplasia of the 4th metacarpal
Intellectual disability, moderate
Short third metatarsal
|
326 (69.0%)
|
DECIPHER:291736
|
2-3 toe syndactyly
Epicanthus
Malar flattening
Short philtrum
|
326 (69.0%)
|
DECIPHER:296477
|
Clinodactyly of the 3rd toe
Deep philtrum
Epicanthus
Malar flattening
|
326 (69.0%)
|
DECIPHER:250441
|
2-3 toe syndactyly
Epicanthus
Malar flattening
Thin upper lip vermilion
|
329 (69.0%)
|
DECIPHER:266639
|
Cleft palate
Clinodactyly of the 5th finger
Downslanted palpebral fissures
Micrognathia
|
329 (69.0%)
|
MyGene2:825
|
Abnormal thumb morphology
Absent lower eyelashes
Cleft palate
Micrognathia
|
329 (69.0%)
|
DECIPHER:266803
|
Cleft palate
Clinodactyly of the 5th finger
Micrognathia
Upslanted palpebral fissure
|
329 (69.0%)
|
MyGene2:2311
|
Adducted thumb
Cleft palate
Epicanthus
Micrognathia
|
329 (69.0%)
|
DECIPHER:306868
|
Arachnodactyly
Cleft palate
Downslanted palpebral fissures
Micrognathia
|
329 (69.0%)
|
UDN:016
|
Cleft palate
Long eyelashes
Micrognathia
Triphalangeal thumb
|
335 (68.9%)
|
DECIPHER:276704
|
Aplasia of the proximal phalanx of the 5th finger
Narrow mouth
Retrognathia
Short thumb
|
336 (68.9%)
|
MyGene2:2136
|
Abnormality of the maxillary sinus
Finger joint hypermobility
Short palpebral fissure
Unilateral cleft lip
|
337 (68.9%)
|
DECIPHER:259340
|
Brachydactyly
Thick upper lip vermilion
Upslanted palpebral fissure
|
338 (68.9%)
|
DECIPHER:307811
|
Blepharophimosis
Genu valgum
Hyperextensibility of the finger joints
Malar flattening
Short philtrum
|
339 (68.8%)
|
MyGene2:823
|
Micrognathia
Radioulnar synostosis
Slanting of the palpebral fissure
|
339 (68.8%)
|
MyGene2:829
|
Absent lower eyelashes
Micrognathia
Radioulnar synostosis
|
341 (68.8%)
|
DECIPHER:254034
|
Broad thumb
Downslanted palpebral fissures
Micrognathia
Prominent nasal bridge
|
341 (68.8%)
|
DECIPHER:249415
|
Broad thumb
Epicanthus
Micrognathia
|
343 (68.8%)
|
MyGene2:824
|
Cleft palate
Micrognathia
Radioulnar synostosis
|
344 (68.8%)
|
DECIPHER:274688
|
Broad thumb
Cleft palate
Micrognathia
|
345 (68.7%)
|
DECIPHER:248559
|
Everted lower lip vermilion
Mandibular prognathia
Narrow palate
Short toe
|
346 (68.7%)
|
DECIPHER:260414
|
Short fifth metatarsal
Telecanthus
|
347 (68.7%)
|
DECIPHER:285998
|
Curved fingers
Downslanted palpebral fissures
High palate
Retrognathia
|
347 (68.7%)
|
DECIPHER:273060
|
Epicanthus
High palate
Large hands
Retrognathia
|
349 (68.5%)
|
DECIPHER:278550
|
Agenesis of permanent teeth
Broad thumb
Short toe
Thick eyebrow
|
350 (68.5%)
|
DECIPHER:281166
|
Broad thumb
Prominent eyelashes
Short philtrum
Wide mouth
|
351 (68.5%)
|
UDN:114
|
Broad eyebrow
Clinodactyly of the 5th finger
Long philtrum
Mandibular prognathia
|
351 (68.5%)
|
UDN:042
|
Clinodactyly of the 5th finger
Increased carrying angle
Lacrimal duct stenosis
Retrognathia
Short philtrum
|
353 (68.4%)
|
DECIPHER:250824
|
Convex nasal ridge
Downslanted palpebral fissures
Micrognathia
Short foot
Short toe
|
354 (68.4%)
|
DECIPHER:274371
|
Cleft palate
Micrognathia
Shortening of all phalanges of the toes
|
355 (68.4%)
|
DECIPHER:304357
|
Blepharophimosis
Hypoplasia of the maxilla
Persistence of primary teeth
Short toe
|
356 (68.4%)
|
DECIPHER:277274
|
Coarse facial features
Relatively short spine
Short thumb
|
357 (68.4%)
|
DECIPHER:304751
|
Deep philtrum
Diastema
Short foot
|
357 (68.4%)
|
DECIPHER:279158
|
Short foot
Thin upper lip vermilion
|
357 (68.4%)
|
DECIPHER:2825
|
Short foot
Thick upper lip vermilion
|
357 (68.4%)
|
DECIPHER:273981
|
Short foot
Thick lower lip vermilion
Thick upper lip vermilion
|