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Monosomy 9p syndrome

ORPHA:261112 · Malformation syndrome · Disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(23)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal dermatoglyphicsHP:0007477
  • AnotiaHP:0009892
  • Anteverted naresHP:0000463
  • BlepharophimosisHP:0000581
  • BrachycephalyHP:0000248
  • Depressed nasal bridgeHP:0005280
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Proximal placement of thumbHP:0009623
  • Short neckHP:0000470
  • Thin nailHP:0001816
  • TrigonocephalyHP:0000243
  • Webbed neckHP:0000465
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(20)

  • Abnormality of the dentitionHP:0000164
  • Abnormality of the tarsal bonesHP:0001850
  • Ambiguous genitaliaHP:0000062
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Highly arched eyebrowHP:0002553
  • HypertoniaHP:0001276
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short noseHP:0003196
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(15)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the vertebral columnHP:0000925
  • Agenesis of corpus callosumHP:0001274
  • Atresia of the external auditory canalHP:0000413
  • Bilateral single transverse palmar creasesHP:0007598
  • Calvarial skull defectHP:0001362
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Downslanted palpebral fissuresHP:0000494
  • HerniaHP:0100790
  • MicrophthalmiaHP:0000568
  • Postaxial hand polydactylyHP:0001162
  • Ureteropelvic junction obstructionHP:0000074