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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351 · Etiological subtype · Subtype of disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(2)

  • HypoglycinemiaHP:0012277
  • HyposerinemiaHP:0012279

Frequent (79-30%)(15)

  • Cerebral hypomyelinationHP:0006808
  • Cerebral white matter atrophyHP:0012762
  • Delayed myelinationHP:0012448
  • Developmental stagnationHP:0007281
  • Epileptic spasmHP:0011097
  • EsotropiaHP:0000565
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Primary microcephalyHP:0011451
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • VomitingHP:0002013

Occasional (29-5%)(28)

  • Abnormal cortical gyrationHP:0002536
  • Abnormal facial shapeHP:0001999
  • Abnormality of hair textureHP:0010719
  • Adducted thumbHP:0001181
  • AthetosisHP:0002305
  • Atonic seizureHP:0010819
  • Atypical behaviorHP:0000708
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral hypoplasiaHP:0006872
  • Cerebral visual impairmentHP:0100704
  • Developmental cataractHP:0000519
  • EsophagitisHP:0100633
  • Focal emotional seizure with laughingHP:0010821
  • Gastroesophageal refluxHP:0002020
  • Generalized ichthyosisHP:0007503
  • Generalized myoclonic seizureHP:0002123
  • Generalized non-motor (absence) seizureHP:0002121
  • HypertoniaHP:0001276
  • HypogonadismHP:0000135
  • Hypoplasia of the corpus callosumHP:0002079
  • Inappropriate cryingHP:0030215
  • Inguinal herniaHP:0000023
  • IrritabilityHP:0000737
  • Megaloblastic anemiaHP:0001889
  • Moderate global developmental delayHP:0011343
  • Spastic tetraplegiaHP:0002510
  • Umbilical herniaHP:0001537
  • VentriculomegalyHP:0002119