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Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(2)

  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263

Frequent (79-30%)(10)

  • AllergyHP:0012393
  • Almond-shaped palpebral fissureHP:0007874
  • Dermal translucencyHP:0010648
  • Downslanted palpebral fissuresHP:0000494
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • Midface retrusionHP:0011800
  • Pointed chinHP:0000307
  • Speech apraxiaHP:0011098
  • Thick eyebrowHP:0000574

Occasional (29-5%)(7)

  • Abnormal fingertip morphologyHP:0001211
  • Autistic behaviorHP:0000729
  • ImmunodeficiencyHP:0002721
  • MacrocephalyHP:0000256
  • Motor stereotypyHP:0000733
  • Postnatal growth retardationHP:0008897
  • SeizureHP:0001250