← 返回搜尋

Cohen syndrome

ORPHA:193 · Malformation syndrome · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(29)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal speech patternHP:0002167
  • Abnormality of the dentitionHP:0000164
  • Aplasia/Hypoplasia of the tongueHP:0010295
  • ArachnodactylyHP:0001166
  • Chorioretinal dystrophyHP:0001135
  • Decreased total neutrophil countHP:0001875
  • Downslanted palpebral fissuresHP:0000494
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • High, narrow palateHP:0002705
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplasia of the zygomatic boneHP:0010669
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • Low anterior hairlineHP:0000294
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • Open mouthHP:0000194
  • Prominent nasal bridgeHP:0000426
  • Sandal gapHP:0001852
  • Short philtrumHP:0000322
  • Slender toeHP:0011308
  • Tapered fingerHP:0001182
  • Thick eyebrowHP:0000574
  • Tooth agenesisHP:0009804

Frequent (79-30%)(18)

  • Abnormal skin pigmentationHP:0001000
  • Cat cryHP:0200046
  • Clinodactyly of the 5th fingerHP:0004209
  • Cubitus valgusHP:0002967
  • Decreased fetal movementHP:0001558
  • Delayed pubertyHP:0000823
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Finger syndactylyHP:0006101
  • Genu valgumHP:0002857
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • MacrodontiaHP:0001572
  • Narrow palmHP:0004283
  • ObesityHP:0001513
  • Short statureHP:0004322
  • Thick hairHP:0100874
  • Weak cryHP:0001612

Occasional (29-5%)(17)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal retinal pigmentationHP:0007703
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • CryptorchidismHP:0000028
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • MicrophthalmiaHP:0000568
  • Mitral valve prolapseHP:0001634
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Pectus excavatumHP:0000767
  • Preauricular skin tagHP:0000384
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486
  • Ventricular septal defectHP:0001629