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SYNGAP1-related developmental and epileptic encephalopathy

ORPHA:544254 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(5)

  • Abnormality of pain sensationHP:0010832
  • Delayed speech and language developmentHP:0000750
  • Generalized-onset seizureHP:0002197
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(14)

  • Abnormal eating behaviorHP:0100738
  • Abnormal facial shapeHP:0001999
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Developmental regressionHP:0002376
  • Eating-induced seizureHP:0020208
  • Gait disturbanceHP:0001288
  • HypotoniaHP:0001252
  • Moderate intellectual disabilityHP:0002342
  • Poor coordinationHP:0002370
  • Poor speechHP:0002465
  • Severe intellectual disabilityHP:0010864
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(22)

  • Abnormal subarachnoid space morphologyHP:0012703
  • Abnormal tongue physiologyHP:0030810
  • Absent speechHP:0001344
  • Anteverted earsHP:0040080
  • Cutaneous photosensitivityHP:0000992
  • Deeply set eyeHP:0000490
  • Feeding difficulties in infancyHP:0008872
  • High palateHP:0000218
  • HypospadiasHP:0000047
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Myoclonic absence seizureHP:0011150
  • Narrow mouthHP:0000160
  • Obsessive-compulsive traitHP:0008770
  • Postaxial polydactylyHP:0100259
  • Recurrent hand flappingHP:0100023
  • Reduced social responsivenessHP:0012760
  • Thin vermilion borderHP:0000233
  • TremorHP:0001337
  • Triangular faceHP:0000325
  • Wide mouthHP:0000154