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Temtamy preaxial brachydactyly syndrome
ORPHA:363417 · Malformation syndrome · Disorder
HPO 表現型（共 48 項）
Very frequent (99-80%)(2)
- Abnormal digit morphologyHP:0011297
- Duplication of thumb phalanxHP:0009942
Frequent (79-30%)(17)
- Abnormal facial shapeHP:0001999
- Abnormality of the dentitionHP:0000164
- Abnormally large globeHP:0001090
- BrachydactylyHP:0001156
- Complete duplication of proximal phalanx of the thumbHP:0009608
- Complete duplication of the middle phalanx of the 3rd fingerHP:0009966
- Global developmental delayHP:0001263
- Growth delayHP:0001510
- HypodontiaHP:0000668
- Intellectual disabilityHP:0001249
- Partial duplication of the proximal phalanx of the 3rd fingerHP:0009970
- Partial duplication of thumb phalanxHP:0009944
- Proximal finger symphalangismHP:0006152
- Severe sensorineural hearing impairmentHP:0008625
- Synostosis of carpals/tarsalsHP:0100266
- Talon cuspHP:0011087
- Widely-spaced maxillary central incisorsHP:0001566
Occasional (29-5%)(29)
- Abnormal lens morphologyHP:0000517
- Abnormal optic disc morphologyHP:0012795
- Abnormal spaced incisorsHP:0040159
- Abnormality of canineHP:0011078
- Blue scleraeHP:0000592
- Clinodactyly of the 2nd fingerHP:0040022
- Clinodactyly of the 5th fingerHP:0004209
- Cutaneous finger syndactylyHP:0010554
- Hypoplasia of the maxillaHP:0000327
- Low-set earsHP:0000369
- MicrodontiaHP:0000691
- MicrognathiaHP:0000347
- Narrow mouthHP:0000160
- OligodontiaHP:0000677
- Optic atrophyHP:0000648
- Poor speechHP:0002465
- Proximal radio-ulnar synostosisHP:0005037
- Radial deviation of fingerHP:0009466
- Round faceHP:0000311
- Short footHP:0001773
- Short halluxHP:0010109
- Short noseHP:0003196
- Short palmHP:0004279
- Short statureHP:0004322
- Specific learning disabilityHP:0001328
- Tarsal synostosisHP:0008368
- Tibial deviation of the 2nd toeHP:0100345
- Tibial deviation of the 5th toeHP:0100347
- Tooth malpositionHP:0000692