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Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Frequent (79-30%)(14)

  • Aplasia/Hypoplasia of the EpiglottisHP:0010565
  • ArachnodactylyHP:0001166
  • Delayed cranial suture closureHP:0000270
  • Downslanted palpebral fissuresHP:0000494
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Shallow orbitsHP:0000586
  • Short noseHP:0003196
  • Thin calvariumHP:0010539

Occasional (29-5%)(1)

  • ApneaHP:0002104