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X-linked intellectual disability, Sutherland-Haan type

ORPHA:93950 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(2)

  • Decreased body weightHP:0004325
  • MicrocephalyHP:0000252

Frequent (79-30%)(9)

  • BrachycephalyHP:0000248
  • Decreased testicular sizeHP:0008734
  • Global developmental delayHP:0001263
  • Hypoplasia of the maxillaHP:0000327
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • SpasticityHP:0001257
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(7)

  • Anal atresiaHP:0002023
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • Mild intellectual disabilityHP:0001256
  • Narrow faceHP:0000275
  • StrabismusHP:0000486