← 返回搜尋

Pontocerebellar hypoplasia type 1

ORPHA:2254 · Clinical subtype · Subtype of disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(9)

  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Degeneration of anterior horn cellsHP:0002398
  • Global developmental delayHP:0001263
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Respiratory failureHP:0002878
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(7)

  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Hypoplasia of the ponsHP:0012110
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Progressive microcephalyHP:0000253
  • Progressive visual lossHP:0000529

Occasional (29-5%)(10)

  • Cerebellar cystHP:0002350
  • Cerebral cortical atrophyHP:0002120
  • Congenital laryngeal stridorHP:0004886
  • HyperreflexiaHP:0001347
  • Peripheral axonal neuropathyHP:0003477
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • StrabismusHP:0000486
  • Thin corpus callosumHP:0033725
  • Tongue fasciculationsHP:0001308

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

  • Arthrogryposis multiplex congenitaHP:0002804
  • AtaxiaHP:0001251
  • EsotropiaHP:0000565