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Intellectual disability-short stature-hypertelorism syndrome

ORPHA:3074 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(5)

  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Hypoplasia of the zygomatic boneHP:0010669

Frequent (79-30%)(4)

  • Clinodactyly of the 5th fingerHP:0004209
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • Wide noseHP:0000445