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Developmental and speech delay due to SOX5 deficiency

ORPHA:313892 · Clinical subtype · Subtype of disorder

HPO 表現型（共 31 項）

Obligate (100%)(2)

  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270

Very frequent (99-80%)(2)

  • Delayed speech and language developmentHP:0000750
  • Hyperplasia of the maxillaHP:0430028

Frequent (79-30%)(16)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal brain morphologyHP:0012443
  • AnxietyHP:0000739
  • Dental crowdingHP:0000678
  • Exaggerated median tongue furrowHP:0002711
  • ExotropiaHP:0000577
  • Frontal bossingHP:0002007
  • HypotoniaHP:0001252
  • Lumbar hyperlordosisHP:0002938
  • MyopiaHP:0000545
  • Narrow palateHP:0000189
  • Optic atrophyHP:0000648
  • Pectus carinatumHP:0000768
  • StrabismusHP:0000486
  • Thoracic kyphoscoliosisHP:0005659
  • Vertebral fusionHP:0002948

Occasional (29-5%)(11)

  • Abnormality of the genital systemHP:0000078
  • Aggressive behaviorHP:0000718
  • Attention deficit hyperactivity disorderHP:0007018
  • Butterfly vertebraeHP:0003316
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Mitral regurgitationHP:0001653
  • Motor stereotypyHP:0000733
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716