← 返回搜尋

Severe oculo-renal-cerebellar syndrome

ORPHA:2715 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(11)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormal retinal vascular morphologyHP:0008046
  • ChoreoathetosisHP:0001266
  • GlomerulopathyHP:0100820
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Optic atrophyHP:0000648
  • Profound intellectual disabilityHP:0002187
  • ProteinuriaHP:0000093
  • Renal insufficiencyHP:0000083
  • StrabismusHP:0000486

Frequent (79-30%)(13)

  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • HyperreflexiaHP:0001347
  • Hypoplasia of the zygomatic boneHP:0010669
  • MacrotiaHP:0000400
  • Malar prominenceHP:0010620
  • Mandibular prognathiaHP:0000303
  • Narrow faceHP:0000275
  • Sandal gapHP:0001852
  • Short statureHP:0004322
  • Spastic diplegiaHP:0001264
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505
  • Wide mouthHP:0000154

Occasional (29-5%)(5)

  • CataractHP:0000518
  • Hypopigmented skin patchesHP:0001053
  • Large earlobeHP:0009748
  • Mask-like faciesHP:0000298
  • ScoliosisHP:0002650