← 返回搜尋

Pontocerebellar hypoplasia type 2

ORPHA:2524 · Clinical subtype · Subtype of disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(10)

  • Cerebellar hypoplasiaHP:0001321
  • Cerebellar vermis hypoplasiaHP:0001320
  • ChoreoathetosisHP:0001266
  • Feeding difficultiesHP:0011968
  • Generalized myoclonic seizureHP:0002123
  • Hypoplasia of the ventral ponsHP:0006850
  • Impaired oropharyngeal swallow responseHP:0031162
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Sleep disturbanceHP:0002360

Frequent (79-30%)(12)

  • ApneaHP:0002104
  • Gastroesophageal refluxHP:0002020
  • Hypoplasia of the brainstemHP:0002365
  • Infantile spasmsHP:0012469
  • Motor delayHP:0001270
  • Oral-pharyngeal dysphagiaHP:0200136
  • Paroxysmal dystoniaHP:0002268
  • Poor suckHP:0002033
  • Progressive microcephalyHP:0000253
  • Recurrent infectionsHP:0002719
  • Reduced visual acuityHP:0007663
  • Sloping foreheadHP:0000340

Occasional (29-5%)(16)

  • Abnormal cortical gyrationHP:0002536
  • Axial hypotoniaHP:0008936
  • Babinski signHP:0003487
  • Bilateral single transverse palmar creasesHP:0007598
  • Bilateral tonic-clonic seizure with generalized onsetHP:0025190
  • Cerebral visual impairmentHP:0100704
  • Dysplastic corpus callosumHP:0006989
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hypoplasia of the corpus callosumHP:0002079
  • Lower limb hypertoniaHP:0006895
  • Simple febrile seizureHP:0011171
  • SpasticityHP:0001257
  • Upper limb hypertoniaHP:0200049
  • VentriculomegalyHP:0002119
  • Viral infection-induced rhabdomyolysisHP:0003558
  • Widened cerebellar subarachnoid spaceHP:0012765

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

  • Cerebellar cystHP:0002350

Excluded (0%)(1)

  • Abnormal facial shapeHP:0001999