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Intellectual disability-polydactyly-uncombable hair syndrome
ORPHA:3082 · Malformation syndrome · Disorder
HPO 表現型（共 34 項）
Very frequent (99-80%)(34)
- Abnormal antihelix morphologyHP:0009738
- Abnormal antitragus morphologyHP:0009896
- Abnormal epiphysis morphologyHP:0005930
- Abnormal hair morphologyHP:0001595
- Abnormal palate morphologyHP:0000174
- Abnormal rib morphologyHP:0000772
- Abnormality of immune system physiologyHP:0010978
- Aplasia/Hypoplasia of fingersHP:0006265
- Aplasia/Hypoplasia of the earlobesHP:0009906
- Aplasia/Hypoplasia of the eyebrowHP:0100840
- Aplasia/Hypoplasia of toeHP:0001991
- Broad hallux phalanxHP:0010059
- Clinodactyly of the 5th fingerHP:0004209
- Conductive hearing impairmentHP:0000405
- CryptorchidismHP:0000028
- Frontal bossingHP:0002007
- Hernia of the abdominal wallHP:0004299
- Hypoplasia of penisHP:0008736
- HypotelorismHP:0000601
- Intellectual disabilityHP:0001249
- KyphosisHP:0002808
- Mandibular prognathiaHP:0000303
- Metatarsus valgusHP:0010508
- MicrognathiaHP:0000347
- Narrow nasal bridgeHP:0000446
- Pectus carinatumHP:0000768
- Postaxial hand polydactylyHP:0001162
- Short neckHP:0000470
- Short statureHP:0004322
- Slow-growing hairHP:0002217
- Toe syndactylyHP:0001770
- Uncombable hairHP:0030056
- Upslanted palpebral fissureHP:0000582
- Wide intermamillary distanceHP:0006610