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Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:447997 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(3)

  • Delayed speech and language developmentHP:0000750
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(9)

  • Brain atrophyHP:0012444
  • DysphagiaHP:0002015
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • Lower limb spasticityHP:0002061
  • Motor delayHP:0001270
  • Primary microcephalyHP:0011451
  • Secondary microcephalyHP:0005484

Occasional (29-5%)(22)

  • Abnormal facial shapeHP:0001999
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral hypomyelinationHP:0006808
  • ClonusHP:0002169
  • Depressed nasal bridgeHP:0005280
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hair-pullingHP:0012167
  • HyperactivityHP:0000752
  • HypertelorismHP:0000316
  • HypsarrhythmiaHP:0002521
  • Infantile spasmsHP:0012469
  • IrritabilityHP:0000737
  • Low-set earsHP:0000369
  • Motor stereotypyHP:0000733
  • Multiple joint contracturesHP:0002828
  • Myoclonic spasmsHP:0003739
  • Protruding earHP:0000411
  • Recurrent respiratory infectionsHP:0002205
  • SynophrysHP:0000664
  • Urinary incontinenceHP:0000020
  • Wide nasal bridgeHP:0000431