← 返回搜尋

Autosomal recessive cerebelloparenchymal disorder type 3

ORPHA:1170 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(9)

  • AtaxiaHP:0001251
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Gait ataxiaHP:0002066
  • Gaze-evoked nystagmusHP:0000640
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(11)

  • Brisk reflexesHP:0001348
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • Cognitive impairmentHP:0100543
  • Diffuse cerebral atrophyHP:0002506
  • HypotoniaHP:0001252
  • Muscle weaknessHP:0001324
  • Oculomotor apraxiaHP:0000657
  • Pes planusHP:0001763
  • Poor motor coordinationHP:0002275
  • Progressive psychomotor deteriorationHP:0007272

Occasional (29-5%)(9)

  • Dilated fourth ventricleHP:0002198
  • Enlarged cisterna magnaHP:0002280
  • Impaired visuospatial constructive cognitionHP:0010794
  • Lactic acidosisHP:0003128
  • OphthalmoplegiaHP:0000602
  • Peripheral neuropathyHP:0009830
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • TremorHP:0001337