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Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

ORPHA:488627 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(4)

  • Coarse facial featuresHP:0000280
  • Failure to thrive in infancyHP:0001531
  • Global developmental delayHP:0001263
  • SeizureHP:0001250

Frequent (79-30%)(10)

  • Bilateral tonic-clonic seizure with focal onsetHP:0007334
  • Cerebral cortical atrophyHP:0002120
  • Chronic kidney diseaseHP:0012622
  • Decreased glomerular filtration rateHP:0012213
  • Gait disturbanceHP:0001288
  • Multifocal cerebral white matter abnormalitiesHP:0007052
  • Poor speechHP:0002465
  • Profound intellectual disabilityHP:0002187
  • Progressive microcephalyHP:0000253
  • ProteinuriaHP:0000093

Occasional (29-5%)(26)

  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • Arachnoid cystHP:0100702
  • Blue nevusHP:0100814
  • Blue scleraeHP:0000592
  • CyanosisHP:0000961
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Dysplastic corpus callosumHP:0006989
  • Gait imbalanceHP:0002141
  • Generalized hypotoniaHP:0001290
  • Genu valgumHP:0002857
  • HyperreflexiaHP:0001347
  • Hypoplasia of the corpus callosumHP:0002079
  • Lateral ventricle dilatationHP:0006956
  • Multifocal hyperintensity of cerebral white matter on MRIHP:0040329
  • Nephrotic syndromeHP:0000100
  • NystagmusHP:0000639
  • Pseudobulbar affectHP:0002193
  • PsychosisHP:0000709
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486
  • Tubulointerstitial nephritisHP:0001970
  • VentriculomegalyHP:0002119
  • Visual hallucinationHP:0002367
  • Visual impairmentHP:0000505