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Hyperphosphatasia-intellectual disability syndrome

ORPHA:247262 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(6)

  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • SeizureHP:0001250
  • Shortening of all distal phalanges of the fingersHP:0006118

Frequent (79-30%)(8)

  • Abnormal facial shapeHP:0001999
  • Bilateral tonic-clonic seizureHP:0002069
  • Downturned corners of mouthHP:0002714
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Long palpebral fissureHP:0000637
  • Tented upper lip vermilionHP:0010804
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(48)

  • Abnormal parietal bone morphologyHP:0002696
  • Aganglionic megacolonHP:0002251
  • Anteriorly placed anusHP:0001545
  • AtaxiaHP:0001251
  • Autistic behaviorHP:0000729
  • Bifid uvulaHP:0000193
  • BrachycephalyHP:0000248
  • Broad philtrumHP:0000289
  • Bulbous noseHP:0000414
  • Cerebral hypomyelinationHP:0006808
  • ClinodactylyHP:0030084
  • Coarse facial featuresHP:0000280
  • Cupped earHP:0000378
  • Decreased head circumferenceHP:0040195
  • Diminished deep tendon reflexHP:0001315
  • EEG with polyspike wave complexesHP:0002392
  • EEG with spike-wave complexesHP:0010850
  • EpicanthusHP:0000286
  • EsotropiaHP:0000565
  • Gait disturbanceHP:0001288
  • Gastrostomy tube feeding in infancyHP:0011471
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • Hip dysplasiaHP:0001385
  • HydronephrosisHP:0000126
  • HypermetropiaHP:0000540
  • Increased head circumferenceHP:0040194
  • Mandibular prognathiaHP:0000303
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • MyoclonusHP:0001336
  • Oculomotor apraxiaHP:0000657
  • OligohydramniosHP:0001562
  • Pectus excavatumHP:0000767
  • PlagiocephalyHP:0001357
  • Prominent nasal bridgeHP:0000426
  • Round faceHP:0000311
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Shallow anterior chamberHP:0000594
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Single umbilical arteryHP:0001195
  • Small nailHP:0001792
  • Supernumerary nippleHP:0002558
  • TelangiectasiaHP:0001009
  • Thickened helicesHP:0000391
  • Upslanted palpebral fissureHP:0000582