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Lobar holoprosencephaly

ORPHA:93924 · Clinical subtype · Subtype of disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(2)

  • Feeding difficultiesHP:0011968
  • HypotelorismHP:0000601

Frequent (79-30%)(28)

  • Abnormal central motor functionHP:0011442
  • Abnormal hypothalamus physiologyHP:0012285
  • Abnormality of the autonomic nervous systemHP:0002270
  • Abnormality of the endocrine systemHP:0000818
  • Abnormality of the eyeHP:0000478
  • AnxietyHP:0000739
  • Aspiration pneumoniaHP:0011951
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Chronic lung diseaseHP:0006528
  • Cleft palateHP:0000175
  • ConstipationHP:0002019
  • Depressed nasal ridgeHP:0000457
  • DepressionHP:0000716
  • Diabetes insipidusHP:0000873
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • IrritabilityHP:0000737
  • Median cleft upper lipHP:0000161
  • Poor speechHP:0002465
  • Poor suckHP:0002033
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Sleep-wake cycle disturbanceHP:0006979
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(34)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal gastrointestinal tract morphologyHP:0012718
  • Abnormal heart morphologyHP:0001627
  • Abnormal heart rate variabilityHP:0031860
  • Abnormal morphology of the olfactory bulbHP:0040327
  • Abnormal pattern of respirationHP:0002793
  • Abnormality of limbsHP:0040064
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the skeletal systemHP:0000924
  • Agenesis of corpus callosumHP:0001274
  • ApathyHP:0000741
  • Aplasia of the falx cerebriHP:0010654
  • Axial hypotoniaHP:0008936
  • Bifid uvulaHP:0000193
  • Central apneaHP:0002871
  • Central hypothyroidismHP:0011787
  • Cerebral visual impairmentHP:0100704
  • Decreased response to growth hormone stimulation testHP:0000824
  • DysphagiaHP:0002015
  • Floppy infantHP:0008947
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hip dislocationHP:0002827
  • HydrocephalusHP:0000238
  • LethargyHP:0001254
  • Limb dystoniaHP:0002451
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • Oromotor apraxiaHP:0007301
  • PanhypopituitarismHP:0000871
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Temperature instabilityHP:0005968
  • VomitingHP:0002013

Very rare (<4-1%)(8)

  • Absent speechHP:0001344
  • CyclopiaHP:0009914
  • Flexion contractureHP:0001371
  • Inability to walkHP:0002540
  • Neural tube defectHP:0045005
  • ProboscisHP:0012806
  • Single narisHP:0009932
  • Solitary median maxillary central incisorHP:0006315