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6q25.2q25.3 microdeletion syndrome

ORPHA:251056 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Global developmental delayHP:0001263
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(15)

  • Abnormal nervous system morphologyHP:0012639
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Agenesis of corpus callosumHP:0001274
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Malar flatteningHP:0000272
  • PlagiocephalyHP:0001357
  • Posteriorly rotated earsHP:0000358
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(13)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • External genital hypoplasiaHP:0003241
  • HypotoniaHP:0001252
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • Neonatal hypotoniaHP:0001319
  • Rocker bottom footHP:0001838
  • SeizureHP:0001250
  • Upslanted palpebral fissureHP:0000582
  • VentriculomegalyHP:0002119