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Intellectual disability-strabismus syndrome

ORPHA:363528 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(3)

  • Failure to thriveHP:0001508
  • Intellectual disabilityHP:0001249
  • StrabismusHP:0000486

Frequent (79-30%)(11)

  • Abnormal brain morphologyHP:0012443
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • MicrocephalyHP:0000252
  • Prominent foreheadHP:0011220
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(45)

  • Achilles tendon contractureHP:0001771
  • Aggressive behaviorHP:0000718
  • Atrial septal defectHP:0001631
  • Brain atrophyHP:0012444
  • CryptorchidismHP:0000028
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed myelinationHP:0012448
  • Diffuse demyelination of the cerebral white matterHP:0007162
  • Facial asymmetryHP:0000324
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • HyperactivityHP:0000752
  • HypertelorismHP:0000316
  • HypohidrosisHP:0000966
  • HypospadiasHP:0000047
  • ImpulsivityHP:0100710
  • Intrauterine growth retardationHP:0001511
  • Limitation of joint mobilityHP:0001376
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • Medullary nephrocalcinosisHP:0012408
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • Narrow nasal ridgeHP:0000418
  • Patent ductus arteriosusHP:0001643
  • PlagiocephalyHP:0001357
  • PolyhydramniosHP:0001561
  • Prominent noseHP:0000448
  • Recurrent gastroenteritisHP:0031123
  • Recurrent otitis mediaHP:0000403
  • Rocker bottom footHP:0001838
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Sloping foreheadHP:0000340
  • SynophrysHP:0000664
  • Talipes equinovarusHP:0001762
  • TelecanthusHP:0000506
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154

Very rare (<4-1%)(13)

  • Abnormality of the dentitionHP:0000164
  • Agenesis of corpus callosumHP:0001274
  • Arachnoid cystHP:0100702
  • Chronic constipationHP:0012450
  • Congenital diaphragmatic herniaHP:0000776
  • Congenital finger flexion contracturesHP:0005879
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • Hypoplasia of the corpus callosumHP:0002079
  • HypothyroidismHP:0000821
  • Joint contracture of the handHP:0009473
  • Peripheral neuropathyHP:0009830
  • Postural instabilityHP:0002172