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Temple-Baraitser syndrome

ORPHA:420561 · Disease · Disorder

HPO 表現型（共 48 項）

Frequent (79-30%)(28)

  • Abnormal brain morphologyHP:0012443
  • Absent speechHP:0001344
  • Aplastic/hypoplastic toenailHP:0010624
  • Bilateral ptosisHP:0001488
  • Broad thumbHP:0011304
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • Generalized hypotoniaHP:0001290
  • HypertelorismHP:0000316
  • Long eyelashesHP:0000527
  • Long halluxHP:0001847
  • Long philtrumHP:0000343
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Myopathic faciesHP:0002058
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Thick eyebrowHP:0000574
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Occasional (29-5%)(20)

  • Absent nail of halluxHP:0012555
  • Absent toenailHP:0001802
  • Anteverted naresHP:0000463
  • Delayed phalangeal epiphyseal ossificationHP:0006016
  • Everted lower lip vermilionHP:0000232
  • Everted upper lip vermilionHP:0010803
  • Full cheeksHP:0000293
  • Gingival overgrowthHP:0000212
  • High anterior hairlineHP:0009890
  • High palateHP:0000218
  • Hypoplastic fingernailHP:0001804
  • Hypoplastic thumbnailHP:0012553
  • Low anterior hairlineHP:0000294
  • Malar flatteningHP:0000272
  • Open mouthHP:0000194
  • Short distal phalanx of fingerHP:0009882
  • Short phalanx of the thumbHP:0009660
  • Tented upper lip vermilionHP:0010804
  • Thick nasal alaeHP:0009928
  • Triangular shaped distal phalanx of the thumbHP:0009648