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Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(6)

  • 4-layered lissencephalyHP:0006818
  • Abnormal facial shapeHP:0001999
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MicrolissencephalyHP:0045028
  • Primary microcephalyHP:0011451

Frequent (79-30%)(15)

  • Abnormal calvaria morphologyHP:0002683
  • Abnormal muscle toneHP:0003808
  • Feeding difficultiesHP:0011968
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicroretrognathiaHP:0000308
  • Narrow foreheadHP:0000341
  • Profound global developmental delayHP:0012736
  • Prominent occiputHP:0000269
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Sloping foreheadHP:0000340
  • Small foreheadHP:0000350
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Occasional (29-5%)(14)

  • Abnormal retinal morphologyHP:0000479
  • Abnormality of neuronal migrationHP:0002269
  • Adducted thumbHP:0001181
  • Agenesis of corpus callosumHP:0001274
  • Atrial septal defectHP:0001631
  • Cerebellar atrophyHP:0001272
  • Cerebral calcificationHP:0002514
  • DolichocephalyHP:0000268
  • DysphagiaHP:0002015
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplastic spleenHP:0006270
  • Patent foramen ovaleHP:0001655
  • Respiratory distressHP:0002098
  • Rocker bottom footHP:0001838