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Distal deletion 3p syndrome

ORPHA:1620 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(7)

  • Cognitive impairmentHP:0100543
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • PtosisHP:0000508
  • Short statureHP:0004322
  • TelecanthusHP:0000506

Frequent (79-30%)(13)

  • Atrioventricular canal defectHP:0006695
  • BrachycephalyHP:0000248
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Postaxial hand polydactylyHP:0001162
  • Posteriorly rotated earsHP:0000358

Occasional (29-5%)(14)

  • Abnormal vestibulo-ocular reflexHP:0007670
  • Anteverted naresHP:0000463
  • BlepharophimosisHP:0000581
  • Clinodactyly of the 5th fingerHP:0004209
  • Inguinal herniaHP:0000023
  • Preauricular pitHP:0004467
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • Short neckHP:0000470
  • SpasticityHP:0001257
  • Thin vermilion borderHP:0000233
  • Triangular faceHP:0000325
  • Umbilical herniaHP:0001537
  • VentriculomegalyHP:0002119