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X-linked intellectual disability, Stoll type

ORPHA:85326 · Malformation syndrome · Disorder

HPO 表現型(共 12 項)

Frequent (79-30%)(12)

  • Anteverted naresHP:0000463
  • Broad nasal tipHP:0000455
  • Clinodactyly of the 5th fingerHP:0004209
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Hypoplastic nasal bridgeHP:0005281
  • Intellectual disabilityHP:0001249
  • Large foreheadHP:0002003
  • Long philtrumHP:0000343
  • Malar flatteningHP:0000272
  • Short statureHP:0004322
  • Widow's peakHP:0000349