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Septopreoptic holoprosencephaly

ORPHA:280195 · Clinical subtype · Subtype of disorder

HPO 表現型（共 24 項）

Frequent (79-30%)(13)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal midbrain morphologyHP:0002418
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral morphologyHP:0003468
  • Anterior hypopituitarismHP:0000830
  • Central diabetes insipidusHP:0000863
  • Expressive language delayHP:0002474
  • Generalized hypotoniaHP:0001290
  • ImpulsivityHP:0100710
  • Intellectual disabilityHP:0001249
  • Precocious pubertyHP:0000826
  • Short attention spanHP:0000736
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(11)

  • Abnormal septum pellucidum morphologyHP:0007375
  • Anteriorly placed anusHP:0001545
  • Coarctation of aortaHP:0001680
  • DysphagiaHP:0002015
  • Frontoethmoidal encephaloceleHP:0007330
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hypoplasia of the ponsHP:0012110
  • MegalencephalyHP:0001355
  • MicrocephalyHP:0000252
  • Perisylvian polymicrogyriaHP:0012650
  • RhombencephalosynapsisHP:0031913