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2q23.1 microdeletion syndrome

ORPHA:228402 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Delayed speech and language developmentHP:0000750
  • Motor stereotypyHP:0000733
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(24)

  • AtaxiaHP:0001251
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • Everted lower lip vermilionHP:0000232
  • Generalized hirsutismHP:0002230
  • Growth delayHP:0001510
  • Highly arched eyebrowHP:0002553
  • HyperactivityHP:0000752
  • HypotoniaHP:0001252
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • Open mouthHP:0000194
  • Paroxysmal bursts of laughterHP:0000749
  • PolyphagiaHP:0002591
  • Sandal gapHP:0001852
  • Self-injurious behaviorHP:0100716
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664
  • Tented upper lip vermilionHP:0010804

Occasional (29-5%)(4)

  • CryptorchidismHP:0000028
  • Hip dysplasiaHP:0001385
  • Hypoplasia of penisHP:0008736
  • MacrodontiaHP:0001572