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Pontocerebellar hypoplasia type 10

ORPHA:411493 · Clinical subtype · Subtype of disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(4)

  • Delayed fine motor developmentHP:0010862
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • HyperreflexiaHP:0001347

Frequent (79-30%)(16)

  • Abnormal cerebral cortex morphologyHP:0002538
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Highly arched eyebrowHP:0002553
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • Long palpebral fissureHP:0000637
  • Poor head controlHP:0002421
  • ProptosisHP:0000520
  • SeizureHP:0001250
  • Sensorimotor neuropathyHP:0007141
  • SpasticityHP:0001257
  • Underdeveloped nasal alaeHP:0000430
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(4)

  • Abnormal brainstem morphologyHP:0002363
  • IrritabilityHP:0000737
  • Simplified gyral patternHP:0009879
  • Visual fixation instabilityHP:0025405

Very rare (<4-1%)(3)

  • Optic atrophyHP:0000648
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505