← 返回搜尋

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

ORPHA:438213 · Disease · Disorder

HPO 表現型（共 86 項）

Very frequent (99-80%)(6)

  • Absent speechHP:0001344
  • Broad-based gaitHP:0002136
  • Delayed fine motor developmentHP:0010862
  • Floppy infantHP:0008947
  • Intellectual disabilityHP:0001249
  • Neurodevelopmental delayHP:0012758

Frequent (79-30%)(24)

  • Abnormal conjugate eye movementHP:0000549
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • ApneaHP:0002104
  • Breathing dysregulationHP:0005957
  • Central sleep apneaHP:0010536
  • ConstipationHP:0002019
  • Decreased circulating vitamin D concentrationHP:0100512
  • DroolingHP:0002307
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • Exaggerated startle responseHP:0002267
  • Excessive daytime somnolenceHP:0001262
  • Feeding difficultiesHP:0011968
  • HypothermiaHP:0002045
  • HypoventilationHP:0002791
  • Inability to walkHP:0002540
  • Motor delayHP:0001270
  • Obstructive sleep apneaHP:0002870
  • Receptive language delayHP:0010863
  • Recurrent singultusHP:0100247
  • SeizureHP:0001250
  • Soft skinHP:0000977
  • Stereotypical hand wringingHP:0012171

Occasional (29-5%)(35)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the endocrine systemHP:0000818
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the skeletal systemHP:0000924
  • Almond-shaped palpebral fissureHP:0007874
  • Aspiration pneumoniaHP:0011951
  • Bilateral tonic-clonic seizure on awakeningHP:0007193
  • Brown anomalyHP:0031622
  • Cerebral visual impairmentHP:0100704
  • Deep philtrumHP:0002002
  • Delayed myelinationHP:0012448
  • DysphagiaHP:0002015
  • Epileptic spasmHP:0011097
  • EsotropiaHP:0000565
  • Eversion of lateral third of lower eyelidsHP:0007655
  • ExophoriaHP:0025313
  • Full cheeksHP:0000293
  • Gastroesophageal refluxHP:0002020
  • Generalized tonic seizureHP:0010818
  • High anterior hairlineHP:0009890
  • Hip dysplasiaHP:0001385
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • Involuntary movementsHP:0004305
  • Joint hypermobilityHP:0001382
  • MyoclonusHP:0001336
  • Myopathic faciesHP:0002058
  • NystagmusHP:0000639
  • OsteoporosisHP:0000939
  • RetrognathiaHP:0000278
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Widened subarachnoid spaceHP:0012704

Very rare (<4-1%)(21)

  • Abnormality of the anterior pituitaryHP:0011747
  • Absent septum pellucidumHP:0001331
  • AnemiaHP:0001903
  • Anomalous origin of left subclavian arteryHP:0031253
  • Atrial septal defectHP:0001631
  • Bicuspid aortic valveHP:0001647
  • CryptorchidismHP:0000028
  • Decreased circulating iron concentrationHP:0040303
  • HydronephrosisHP:0000126
  • HypothyroidismHP:0000821
  • Increased circulating prolactin concentrationHP:0000870
  • Kidney stoneHP:0000787
  • Optic disc pallorHP:0000543
  • OsteopeniaHP:0000938
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • Precocious pubertyHP:0000826
  • Pulmonic stenosisHP:0001642
  • Uterine prolapseHP:0000139
  • Ventricular septal defectHP:0001629
  • Vesicoureteral refluxHP:0000076