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X-linked intellectual disability due to GRIA3 mutations

ORPHA:364028 · Disease · Disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(2)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263

Frequent (79-30%)(5)

  • Atypical behaviorHP:0000708
  • Moderate intellectual disabilityHP:0002342
  • SeizureHP:0001250
  • Slender buildHP:0001533
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(50)

  • Abnormality of muscle sizeHP:0030236
  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • Axial hypotoniaHP:0008936
  • Babinski signHP:0003487
  • Bilateral tonic-clonic seizureHP:0002069
  • BrachycephalyHP:0000248
  • Cerebellar vermis hypoplasiaHP:0001320
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Distal muscle weaknessHP:0002460
  • Eversion of lateral third of lower eyelidsHP:0007655
  • Facial hypotoniaHP:0000297
  • Genu recurvatumHP:0002816
  • HydronephrosisHP:0000126
  • Hypoplasia of the corpus callosumHP:0002079
  • HyporeflexiaHP:0001265
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • MacrocephalyHP:0000256
  • Macrodontia of permanent maxillary central incisorHP:0000675
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • Mandibular prognathiaHP:0000303
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • MyoclonusHP:0001336
  • Narrow palateHP:0000189
  • Open mouthHP:0000194
  • Pain insensitivityHP:0007021
  • Pes planusHP:0001763
  • Prominent supraorbital ridgesHP:0000336
  • PtosisHP:0000508
  • Recurrent infectionsHP:0002719
  • Reduced eye contactHP:0000817
  • Retrocerebellar cystHP:0006951
  • ScoliosisHP:0002650
  • Self-mutilationHP:0000742
  • Severe expressive language delayHP:0006863
  • Severe intellectual disabilityHP:0010864
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Short upper lipHP:0000188
  • Sleep disturbanceHP:0002360
  • Sleep-wake cycle disturbanceHP:0006979
  • SpasticityHP:0001257
  • Status epilepticusHP:0002133
  • Thick vermilion borderHP:0012471
  • Uplifted earlobeHP:0009909