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15q24 microdeletion syndrome

ORPHA:94065 · Etiological subtype · Subtype of disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(1)

  • Global developmental delayHP:0001263

Frequent (79-30%)(16)

  • Abnormality of the outer earHP:0000356
  • Atypical behaviorHP:0000708
  • BrachydactylyHP:0001156
  • Broad eyebrowHP:0011229
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • High anterior hairlineHP:0009890
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • Postnatal growth retardationHP:0008897
  • Recurrent infectionsHP:0002719
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Smooth philtrumHP:0000319

Occasional (29-5%)(34)

  • Abnormal heart morphologyHP:0001627
  • Abnormal palate morphologyHP:0000174
  • Abnormal thumb morphologyHP:0001172
  • Abnormal toe morphologyHP:0001780
  • Abnormality of the dentitionHP:0000164
  • Anal atresiaHP:0002023
  • ClinodactylyHP:0030084
  • ColobomaHP:0000589
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • Decreased response to growth hormone stimulation testHP:0000824
  • Depressed nasal bridgeHP:0005280
  • Facial asymmetryHP:0000324
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Hearing impairmentHP:0000365
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Intestinal atresiaHP:0011100
  • KyphosisHP:0002808
  • Long faceHP:0000276
  • MicrocephalyHP:0000252
  • MicrophallusHP:0030260
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • Prominent nasal bridgeHP:0000426
  • Proximal placement of thumbHP:0009623
  • ScoliosisHP:0002650
  • Small handHP:0200055
  • StrabismusHP:0000486
  • Thick lower lip vermilionHP:0000179
  • Wide nasal baseHP:0012810

Very rare (<4-1%)(1)

  • MyelomeningoceleHP:0002475