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Phosphoserine aminotransferase deficiency, infantile/juvenile form

ORPHA:284417 · Etiological subtype · Subtype of disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(7)

  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • HyperglycinemiaHP:0002154
  • HyposerinemiaHP:0012279
  • Inappropriate cryingHP:0030215
  • Primary microcephalyHP:0011451
  • Profound global developmental delayHP:0012736

Frequent (79-30%)(8)

  • Axial hypotoniaHP:0008936
  • Cerebral white matter hypoplasiaHP:0012430
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • Intrauterine growth retardationHP:0001511
  • SeizureHP:0001250
  • Thickened nuchal skin foldHP:0000474

Occasional (29-5%)(25)

  • Ankle flexion contractureHP:0006466
  • Bilateral talipes equinovarusHP:0001776
  • Cerebellar vermis hypoplasiaHP:0001320
  • CraniosynostosisHP:0001363
  • Cyanotic episodeHP:0200048
  • Delayed myelinationHP:0012448
  • Depressed nasal bridgeHP:0005280
  • EEG with focal sharp wavesHP:0011196
  • EEG with polyspike wave complexesHP:0002392
  • Epileptic spasmHP:0011097
  • Gastrostomy tube feeding in infancyHP:0011471
  • HypertelorismHP:0000316
  • IchthyosisHP:0008064
  • Knee flexion contractureHP:0006380
  • Lateral ventricle dilatationHP:0006956
  • Limb joint contractureHP:0003121
  • LissencephalyHP:0001339
  • MicrognathiaHP:0000347
  • MyoclonusHP:0001336
  • Nasogastric tube feedingHP:0040288
  • Paroxysmal involuntary eye movementsHP:0007704
  • Short neckHP:0000470
  • Simplified gyral patternHP:0009879
  • Sloping foreheadHP:0000340
  • Spastic tetraparesisHP:0001285