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Total: 18893 cases


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Rank
(Similarity)
Case
Matched Phenotype  Matched Gene 

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