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Total: 18893 cases


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Rank
(Similarity)
Case
Matched Phenotype  Matched Gene 

238
(70.5%)

DECIPHER:279262

Behavioral abnormality Short thumb

238
(70.5%)

DECIPHER:340723

Delayed speech and language development Short finger

238
(70.5%)

DECIPHER:261080

Psychosis Short thumb

238
(70.5%)

DECIPHER:283122

Brachydactyly Short distal phalanx of the thumb

238
(70.5%)

DECIPHER:296486

Delayed speech and language development Short middle phalanx of finger

238
(70.5%)

DECIPHER:284096

Optic atrophy Short distal phalanx of finger

238
(70.5%)

DECIPHER:277167

Inguinal hernia Short 5th finger

238
(70.5%)

DECIPHER:276823

Abnormality of the pinna Short finger

238
(70.5%)

DECIPHER:366670

Anxiety Short middle phalanx of the 5th finger

238
(70.5%)

DECIPHER:276350

Adducted thumb Short middle phalanx of finger

238
(70.5%)

DECIPHER:282167

Abnormal anterior chamber morphology Foot oligodactyly Short thumb

238
(70.5%)

DECIPHER:253874

Aplasia/Hypoplasia of metatarsal bones Scrotal hypoplasia Short thumb

238
(70.5%)

DECIPHER:271436

Sensorineural hearing impairment Short phalanx of the thumb

254
(70.4%)

DECIPHER:304755

Arachnodactyly Highly arched eyebrow Micrognathia Thin upper lip vermilion

255
(70.4%)

DECIPHER:268087

Abnormality of the epiphysis of the femoral head Conical tooth Hypoplasia of the lower eyelids Micrognathia

256
(70.3%)

DECIPHER:295532

Clinodactyly of the 5th finger Micromelia Thick eyebrow Thick lower lip vermilion

257
(70.2%)

DECIPHER:272790

Epicanthus Short 3rd metacarpal Short metatarsal

258
(70.2%)

DECIPHER:2067

Broad thumb Mandibular prognathia Thick lower lip vermilion Thick upper lip vermilion

258
(70.2%)

DECIPHER:304705

Broad thumb Mandibular prognathia Short philtrum Wide mouth

260
(70.2%)

DECIPHER:261831

Brachydactyly Long philtrum Macrocephaly Synophrys

261
(70.2%)

DECIPHER:307426

Absent forearm bone Aplasia of the fingers Hemangioma

261
(70.2%)

DECIPHER:300330

Aplasia/Hypoplasia of the 5th finger Aplasia/Hypoplasia of the radius Pelvic kidney

263
(70.1%)

DECIPHER:268624

Aplasia of the fingers Epicanthus Narrow palate

264
(70.0%)

DECIPHER:314693

Micrognathia Single transverse palmar crease Telecanthus Thin vermilion border

265
(70.0%)

UDN:113

Broad jaw Downslanted palpebral fissures Short metacarpal Square face

266
(70.0%)

DECIPHER:1414

Cleft palate Micrognathia Short palm

267
(70.0%)

DECIPHER:249275

Broad thumb High palate Short toe Upslanted palpebral fissure

267
(70.0%)

MyGene2:2386

Blepharophimosis High palate Short hallux Synostosis involving the 4th metacarpal

269
(69.9%)

DECIPHER:285801

Clinodactyly of the 5th finger Exaggerated cupid's bow Mandibular prognathia Upslanted palpebral fissure

269
(69.9%)

DECIPHER:254026

Clinodactyly of the 5th finger Epicanthus Mandibular prognathia Smooth philtrum

269
(69.9%)

DECIPHER:307806

Adducted thumb Deep philtrum Epicanthus Mandibular prognathia

269
(69.9%)

DECIPHER:280230

Epicanthus Retrognathia Smooth philtrum Tapered finger

269
(69.9%)

UDN:056

Deep philtrum Epicanthus Mandibular prognathia Prominent fingertip pads

274
(69.8%)

MyGene2:819

Abnormal thumb morphology Micrognathia Midface retrusion Radioulnar synostosis Slanting of the palpebral fissure

275
(69.8%)

DECIPHER:300795

Short finger Synophrys

275
(69.8%)

DECIPHER:301481

Abnormal eyebrow morphology Short 5th finger

275
(69.8%)

DECIPHER:284361

Short distal phalanx of the thumb Synophrys

275
(69.8%)

DECIPHER:307043

Short proximal phalanx of the 5th finger Synophrys

275
(69.8%)

DECIPHER:338712

Short finger Synophrys

275
(69.8%)

DECIPHER:305430

Coarse facial features Short finger Synophrys

281
(69.8%)

DECIPHER:289869

Camptodactyly of finger Hypoplasia of the maxilla Long eyelashes Thin upper lip vermilion

282
(69.8%)

DECIPHER:304054

Contracture of the proximal interphalangeal joint of the 5th finger Microretrognathia Short long bone Upslanted palpebral fissure

283
(69.7%)

DECIPHER:867

Epicanthus Everted lower lip vermilion Micrognathia

283
(69.7%)

DECIPHER:264038

Micrognathia Thin vermilion border Upslanted palpebral fissure

283
(69.7%)

DECIPHER:265063

Epicanthus Micrognathia Thin vermilion border

283
(69.7%)

DECIPHER:307263

Almond-shaped palpebral fissure Micrognathia Thick vermilion border

283
(69.7%)

DECIPHER:2754

Everted lower lip vermilion Long eyelashes Micrognathia

288
(69.6%)

DECIPHER:306595

Abnormality of the tongue Broad thumb Short distal phalanx of the 5th finger

288
(69.6%)

DECIPHER:272789

Abnormality of dental eruption Malar flattening Short 5th finger Short metacarpal

290
(69.6%)

MyGene2:2234

Small hand Thin vermilion border

290
(69.6%)

DECIPHER:383993

Short foot Small hand Thin vermilion border

292
(69.6%)

DECIPHER:338976

Broad thumb Lacrimal duct atresia Microcephaly Thin upper lip vermilion

292
(69.6%)

DECIPHER:293791

Abnormality of the philtrum Brachycephaly Broad thumb Prominent fingertip pads Sparse and thin eyebrow

294
(69.5%)

DECIPHER:286948

Clinodactyly of the 5th finger Downslanted palpebral fissures Exaggerated cupid's bow Radioulnar synostosis

295
(69.5%)

DECIPHER:272506

Abnormality of upper lip Broad thumb Mesomelic/rhizomelic limb shortening Tapered finger

296
(69.5%)

DECIPHER:273836

Brachydactyly Downslanted palpebral fissures Sacral dimple Smooth philtrum

296
(69.5%)

DECIPHER:273049

Brachydactyly Downslanted palpebral fissures Long philtrum Sacral dimple

298
(69.3%)

DECIPHER:258519

Narrow mouth Palpebral edema Short foot Short palm

298
(69.3%)

DECIPHER:1818

Downturned corners of mouth Short foot Short palm Upslanted palpebral fissure

298
(69.3%)

DECIPHER:253206

Downslanted palpebral fissures High palate Short palm