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Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

ORPHA:500545 · Disease · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(7)

  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • IrritabilityHP:0000737
  • SeizureHP:0001250
  • Stereotypical hand wringingHP:0012171

Frequent (79-30%)(5)

  • HypsarrhythmiaHP:0002521
  • MicrocephalyHP:0000252
  • Profound intellectual disabilityHP:0002187
  • Severe intellectual disabilityHP:0010864
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(11)

  • Apneic episodes in infancyHP:0005949
  • Broad nasal tipHP:0000455
  • Cerebral atrophyHP:0002059
  • Cerebral white matter hypoplasiaHP:0012430
  • Delayed myelinationHP:0012448
  • Developmental regressionHP:0002376
  • Flexion contractureHP:0001371
  • Juvenile cataractHP:0001118
  • Nasogastric tube feedingHP:0040288
  • ScoliosisHP:0002650
  • SpasticityHP:0001257