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Autosomal recessive chorioretinopathy-microcephaly syndrome

ORPHA:2518 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • Abnormal retinal pigmentationHP:0007703
  • MicrocephalyHP:0000252

Frequent (79-30%)(20)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormality of neuronal migrationHP:0002269
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Biparietal narrowingHP:0004422
  • Cerebral cortical atrophyHP:0002120
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Pointed chinHP:0000307
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505
  • Wide nasal bridgeHP:0000431