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Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(7)

  • Delayed speech and language developmentHP:0000750
  • Everted upper lip vermilionHP:0010803
  • Full cheeksHP:0000293
  • Hyperplasia of the maxillaHP:0430028
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250
  • Widely spaced teethHP:0000687

Frequent (79-30%)(19)

  • Abnormality of the gingivaHP:0000168
  • Absent cupid's bowHP:0010800
  • Anteverted naresHP:0000463
  • Bilateral tonic-clonic seizureHP:0002069
  • Brain imaging abnormalityHP:0410263
  • Coarse facial featuresHP:0000280
  • Delayed ability to sitHP:0025336
  • Delayed ability to walkHP:0031936
  • Depressed nasal bridgeHP:0005280
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Generalized non-motor (absence) seizureHP:0002121
  • HypotoniaHP:0001252
  • Increased axial length of the globeHP:0007800
  • MicrognathiaHP:0000347
  • Mild global developmental delayHP:0011342
  • Prominent nasal tipHP:0005274
  • Severe global developmental delayHP:0011344
  • Sparse lateral eyebrowHP:0005338

Occasional (29-5%)(36)

  • Abducens palsyHP:0006897
  • Abnormal Eustachian tube morphologyHP:0040115
  • Abnormal skeletal morphologyHP:0011842
  • Absent speechHP:0001344
  • AmblyopiaHP:0000646
  • Autistic behaviorHP:0000729
  • Broad-based gaitHP:0002136
  • Cerebellar hypoplasiaHP:0001321
  • Cerebral hypomyelinationHP:0006808
  • Cleft palateHP:0000175
  • ConstipationHP:0002019
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Gait ataxiaHP:0002066
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hip dysplasiaHP:0001385
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • Lower-limb joint contractureHP:0005750
  • Marcus Gunn jaw winking synkinesisHP:0025186
  • Metatarsus adductusHP:0001840
  • MicrocephalyHP:0000252
  • Motor stereotypyHP:0000733
  • MyopiaHP:0000545
  • Osteopathia striataHP:0010740
  • PachygyriaHP:0001302
  • Pes cavusHP:0001761
  • Pineal cystHP:0012683
  • Recurrent otitis mediaHP:0000403
  • Repetitive compulsive behaviorHP:0008762
  • Right aortic archHP:0012020
  • Stereotypical body rockingHP:0012172
  • StrabismusHP:0000486
  • TracheomalaciaHP:0002779
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119