← 返回搜尋

2q32q33 deletion syndrome

ORPHA:251019 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(4)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322

Frequent (79-30%)(12)

  • Cleft palateHP:0000175
  • Dental crowdingHP:0000678
  • Feeding difficultiesHP:0011968
  • Fine hairHP:0002213
  • Growth delayHP:0001510
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Prominent nasal bridgeHP:0000426
  • Thin vermilion borderHP:0000233

Occasional (29-5%)(27)

  • Aggressive behaviorHP:0000718
  • Anteverted naresHP:0000463
  • AnxietyHP:0000739
  • ArachnodactylyHP:0001166
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • BrachycephalyHP:0000248
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Clinodactyly of the 5th fingerHP:0004209
  • Conspicuously happy dispositionHP:0100024
  • Convex nasal ridgeHP:0000444
  • Decreased testicular sizeHP:0008734
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Incomprehensible speechHP:0002546
  • Joint hypermobilityHP:0001382
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Narrow mouthHP:0000160
  • OligodontiaHP:0000677
  • Sleep disturbanceHP:0002360
  • Sparse hairHP:0008070
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Toe clinodactylyHP:0001863