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Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

ORPHA:500533 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(8)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Infantile spasmsHP:0012469
  • MacrocephalyHP:0000256
  • MegalencephalyHP:0001355
  • PolyhydramniosHP:0001561
  • SeizureHP:0001250

Frequent (79-30%)(3)

  • Cerebral white matter hypoplasiaHP:0012430
  • Periventricular white matter hyperintensitiesHP:0030891
  • VentriculomegalyHP:0002119

Occasional (29-5%)(23)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Absent speechHP:0001344
  • Atrial septal defectHP:0001631
  • Congestive heart failureHP:0001635
  • Decreased muscle massHP:0003199
  • Diabetes insipidusHP:0000873
  • DroolingHP:0002307
  • Facial hypotoniaHP:0000297
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Focal impaired awareness seizureHP:0002384
  • High foreheadHP:0000348
  • Highly arched eyebrowHP:0002553
  • Interictal epileptiform activityHP:0011182
  • Joint hypermobilityHP:0001382
  • Narrow faceHP:0000275
  • NephrocalcinosisHP:0000121
  • Open mouthHP:0000194
  • Severe global developmental delayHP:0011344
  • Severe muscular hypotoniaHP:0006829
  • Status epilepticusHP:0002133
  • Tented upper lip vermilionHP:0010804
  • Wide mouthHP:0000154