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Oculocerebral hypopigmentation syndrome, Cross type

ORPHA:2719 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(4)

  • Abnormal palate morphologyHP:0000174
  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322
  • Thin skinHP:0000963

Frequent (79-30%)(27)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Abnormality of movementHP:0100022
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • AnemiaHP:0001903
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • ArachnodactylyHP:0001166
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • DolichocephalyHP:0000268
  • EctropionHP:0000656
  • EEG abnormalityHP:0002353
  • Growth delayHP:0001510
  • HyperreflexiaHP:0001347
  • Limitation of joint mobilityHP:0001376
  • MicrodontiaHP:0000691
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • Ocular albinismHP:0001107
  • Short noseHP:0003196
  • Spastic tetraplegiaHP:0002510
  • SpasticityHP:0001257

Occasional (29-5%)(14)

  • Abnormal bone marrow cell morphologyHP:0005561
  • Abnormal thumb morphologyHP:0001172
  • Abnormality of the urinary systemHP:0000079
  • Abnormality of the voiceHP:0001608
  • AthetosisHP:0002305
  • Chorioretinal scalloped atrophyHP:0001139
  • Dandy-Walker malformationHP:0001305
  • Hypopigmentation of hairHP:0005599
  • Inguinal herniaHP:0000023
  • Iris hypopigmentationHP:0007730
  • MicrocephalyHP:0000252
  • MyopiaHP:0000545
  • Sensorineural hearing impairmentHP:0000407
  • Ureteral stenosisHP:0000071