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Dysmorphism-short stature-deafness-difference of sex development syndrome

ORPHA:2282 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(20)

  • Anteverted naresHP:0000463
  • Facial asymmetryHP:0000324
  • Feeding difficultiesHP:0011968
  • Generalized hypotoniaHP:0001290
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • Hyperactive deep tendon reflexesHP:0006801
  • HypertelorismHP:0000316
  • HypoxemiaHP:0012418
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Patent ductus arteriosusHP:0001643
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent respiratory infectionsHP:0002205
  • Severe intellectual disabilityHP:0010864
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(10)

  • Abnormality of the skeletal systemHP:0000924
  • Cleft soft palateHP:0000185
  • CryptorchidismHP:0000028
  • HypospadiasHP:0000047
  • Male pseudohermaphroditismHP:0000037
  • MicropenisHP:0000054
  • PtosisHP:0000508
  • Shawl scrotumHP:0000049
  • Short neckHP:0000470
  • Submucous cleft soft palateHP:0011819