← 返回搜尋

Ataxia-telangiectasia-like disorder

ORPHA:251347 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(1)

  • AtaxiaHP:0001251

Frequent (79-30%)(17)

  • Absent Achilles reflexHP:0003438
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis hypoplasiaHP:0001320
  • ChoreaHP:0002072
  • Dilated fourth ventricleHP:0002198
  • Diminished deep tendon reflexHP:0001315
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • DystoniaHP:0001332
  • Enlarged interhemispheric fissureHP:0100953
  • Gait ataxiaHP:0002066
  • Generalized hypotoniaHP:0001290
  • Intention tremorHP:0002080
  • Mask-like faciesHP:0000298
  • Oculomotor apraxiaHP:0000657
  • Orofacial dyskinesiaHP:0002310
  • Slow saccadic eye movementsHP:0000514

Occasional (29-5%)(15)

  • Abnormality of ocular smooth pursuitHP:0000617
  • Delayed speech and language developmentHP:0000750
  • DroolingHP:0002307
  • DysdiadochokinesisHP:0002075
  • Dysmetric saccadesHP:0000641
  • Frequent fallsHP:0002359
  • Gaze-evoked nystagmusHP:0000640
  • Hyperactive deep tendon reflexesHP:0006801
  • Hypergonadotropic hypogonadismHP:0000815
  • Joint hypermobilityHP:0001382
  • MyoclonusHP:0001336
  • Pes cavusHP:0001761
  • Sensorimotor neuropathyHP:0007141
  • Small posterior fossaHP:0040010
  • Vertical nystagmusHP:0010544

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

  • Short statureHP:0004322