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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

ORPHA:438216 · Etiological subtype · Subtype of disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(4)

  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • Respiratory distressHP:0002098
  • SeizureHP:0001250

Frequent (79-30%)(2)

  • Myopathic faciesHP:0002058
  • Severe global developmental delayHP:0011344

Occasional (29-5%)(32)

  • Abnormal pinna morphologyHP:0000377
  • Abnormal primary tooth morphologyHP:0006481
  • Anteverted naresHP:0000463
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Broad nasal tipHP:0000455
  • Broad-based gaitHP:0002136
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • EpicanthusHP:0000286
  • Exaggerated startle responseHP:0002267
  • Facial asymmetryHP:0000324
  • Facial hypotoniaHP:0000297
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • Handgrip myotoniaHP:0012899
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Incisor macrodontiaHP:0011081
  • Long faceHP:0000276
  • Long palpebral fissureHP:0000637
  • MicrocephalyHP:0000252
  • MyopiaHP:0000545
  • Prominent foreheadHP:0011220
  • Severe muscular hypotoniaHP:0006829
  • Short attention spanHP:0000736
  • TelecanthusHP:0000506
  • Tented upper lip vermilionHP:0010804
  • Thin upper lip vermilionHP:0000219
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431