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FOXG1 syndrome

ORPHA:561854 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(8)

  • DyskinesiaHP:0100660
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Motor stereotypyHP:0000733
  • Progressive microcephalyHP:0000253
  • StrabismusHP:0000486

Frequent (79-30%)(28)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormality of movementHP:0100022
  • Absent speechHP:0001344
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • BruxismHP:0003763
  • ChoreoathetosisHP:0001266
  • Cognitive impairmentHP:0100543
  • ConstipationHP:0002019
  • Decreased body weightHP:0004325
  • Delayed myelinationHP:0012448
  • DystoniaHP:0001332
  • Excessive salivationHP:0003781
  • Focal-onset seizureHP:0007359
  • Gastroesophageal refluxHP:0002020
  • Hyperkinetic movementsHP:0002487
  • Inappropriate cryingHP:0030215
  • Infantile spasmsHP:0012469
  • MyoclonusHP:0001336
  • Orofacial dyskinesiaHP:0002310
  • Paroxysmal bursts of laughterHP:0000749
  • Reduced eye contactHP:0000817
  • Severe global developmental delayHP:0011344
  • Severe postnatal growth retardationHP:0008850
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505

Occasional (29-5%)(11)

  • Abnormal respiratory system physiologyHP:0002795
  • Agenesis of corpus callosumHP:0001274
  • Developmental regressionHP:0002376
  • Hypoplasia of the corpus callosumHP:0002079
  • Inability to walkHP:0002540
  • KyphoscoliosisHP:0002751
  • Optic disc hypoplasiaHP:0007766
  • PachygyriaHP:0001302
  • Poor speechHP:0002465
  • Reduced social responsivenessHP:0012760
  • ScoliosisHP:0002650

Very rare (<4-1%)(2)

  • Status epilepticusHP:0002133
  • Stereotypical hand wringingHP:0012171