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X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

ORPHA:85280 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(8)

  • Abnormal facial shapeHP:0001999
  • Cubitus valgusHP:0002967
  • Deeply set eyeHP:0000490
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • Melanocytic nevusHP:0000995
  • Moderate intellectual disabilityHP:0002342
  • Short philtrumHP:0000322

Frequent (79-30%)(4)

  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • SeizureHP:0001250
  • Truncal obesityHP:0001956

Occasional (29-5%)(5)

  • Bilateral single transverse palmar creasesHP:0007598
  • High palateHP:0000218
  • Pectus excavatumHP:0000767
  • Short statureHP:0004322
  • Tapered fingerHP:0001182