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Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

ORPHA:369837 · Malformation syndrome · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(13)

  • Abnormal skeletal morphologyHP:0011842
  • BrachycephalyHP:0000248
  • Cerebral visual impairmentHP:0100704
  • Depressed nasal bridgeHP:0005280
  • High foreheadHP:0000348
  • HypotoniaHP:0001252
  • Long philtrumHP:0000343
  • Narrow foreheadHP:0000341
  • NystagmusHP:0000639
  • OsteopeniaHP:0000938
  • Severe intellectual disabilityHP:0010864
  • Slender long boneHP:0003100
  • StrabismusHP:0000486

Frequent (79-30%)(20)

  • Abnormal eye physiologyHP:0012373
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the urinary systemHP:0000079
  • Bilateral tonic-clonic seizureHP:0002069
  • Congenital megaureterHP:0008676
  • Decreased circulating alkaline phosphatase activityHP:0003282
  • Delayed skeletal maturationHP:0002750
  • Downturned corners of mouthHP:0002714
  • Generalized myoclonic seizureHP:0002123
  • Generalized tonic seizureHP:0010818
  • Hearing impairmentHP:0000365
  • High, narrow palateHP:0002705
  • HypercalcemiaHP:0003072
  • HypercalciuriaHP:0002150
  • HypermetropiaHP:0000540
  • NephrocalcinosisHP:0000121
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Upper limb undergrowthHP:0009824
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(38)

  • Abnormal gastrointestinal tract morphologyHP:0012718
  • Abnormal lung lobationHP:0002101
  • AstigmatismHP:0000483
  • Atrial septal defectHP:0001631
  • Central sleep apneaHP:0010536
  • Cerebellar atrophyHP:0001272
  • CraniosynostosisHP:0001363
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgM concentrationHP:0002850
  • Downgaze palsyHP:0025330
  • EEG with generalized sharp slow wavesHP:0011199
  • EEG with spike-wave complexesHP:0010850
  • Exaggerated cupid's bowHP:0002263
  • Gastroesophageal refluxHP:0002020
  • Generalized non-motor (absence) seizureHP:0002121
  • Global brain atrophyHP:0002283
  • HypertriglyceridemiaHP:0002155
  • HypoparathyroidismHP:0000829
  • Inverted nipplesHP:0003186
  • Jerky head movementsHP:0006961
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Multifocal epileptiform dischargesHP:0010841
  • MyopiaHP:0000545
  • Nasogastric tube feeding in infancyHP:0011470
  • ObesityHP:0001513
  • Obstructive sleep apneaHP:0002870
  • Patent ductus arteriosusHP:0001643
  • Posterior staphylomaHP:0030856
  • Precocious pubertyHP:0000826
  • Premature loss of teethHP:0006480
  • Renal cystHP:0000107
  • Renal dysplasiaHP:0000110
  • Restrictive cardiomyopathyHP:0001723
  • Tented upper lip vermilionHP:0010804
  • Upslanted palpebral fissureHP:0000582