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X-linked intellectual disability, Armfield type

ORPHA:85276 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(11)

  • Broad foreheadHP:0000337
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055

Frequent (79-30%)(7)

  • CataractHP:0000518
  • Cleft palateHP:0000175
  • GlaucomaHP:0000501
  • Inguinal herniaHP:0000023
  • MacrotiaHP:0000400
  • Midface retrusionHP:0011800
  • Short philtrumHP:0000322

Occasional (29-5%)(20)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormality of the elbowHP:0009811
  • AminoaciduriaHP:0003355
  • BrachycephalyHP:0000248
  • Capillary hemangiomaHP:0005306
  • Cerebral cortical atrophyHP:0002120
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • Facial capillary hemangiomaHP:0000996
  • GalactosuriaHP:0012023
  • Limited elbow extensionHP:0001377
  • Long earHP:0400004
  • MacrocephalyHP:0000256
  • Mandibular prognathiaHP:0000303
  • Nevus flammeus of the foreheadHP:0007413
  • Organic aciduriaHP:0001992
  • Patent ductus arteriosusHP:0001643
  • StrabismusHP:0000486
  • Wide mouthHP:0000154