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Distal duplication 5q syndrome

ORPHA:96097 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(2)

  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Frequent (79-30%)(23)

  • BrachydactylyHP:0001156
  • Carious teethHP:0000670
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • Hypoplasia of the radiusHP:0002984
  • Hypoplasia of the ulnaHP:0003022
  • HypospadiasHP:0000047
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • Narrow mouthHP:0000160
  • Prominent nasal bridgeHP:0000426
  • Short noseHP:0003196
  • Thin vermilion borderHP:0000233
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(5)

  • Absent thumbHP:0009777
  • Aplasia/Hypoplasia of the gallbladderHP:0011466
  • Chorioretinal colobomaHP:0000567
  • DextrocardiaHP:0001651
  • Eczematoid dermatitisHP:0000964