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Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(14)

  • Abnormal dermatoglyphicsHP:0007477
  • CataractHP:0000518
  • Everted lower lip vermilionHP:0000232
  • Feeding difficulties in infancyHP:0008872
  • Furrowed tongueHP:0000221
  • Hypogonadotropic hypogonadismHP:0000044
  • Intellectual disabilityHP:0001249
  • Low posterior hairlineHP:0002162
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800
  • Prematurely aged appearanceHP:0007495
  • Short philtrumHP:0000322
  • Short statureHP:0004322

Frequent (79-30%)(13)

  • Abnormal distal phalanx morphology of fingerHP:0009832
  • Abnormal toenail morphologyHP:0008388
  • Abnormality of the handHP:0001155
  • BrachycephalyHP:0000248
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • High palateHP:0000218
  • HyperlordosisHP:0003307
  • HypotelorismHP:0000601
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Tooth malpositionHP:0000692
  • Ulnar deviation of fingerHP:0009465

Occasional (29-5%)(3)

  • Abnormal antihelix morphologyHP:0009738
  • Cerebral cortical atrophyHP:0002120
  • ScoliosisHP:0002650