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Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(11)

  • Cupped earHP:0000378
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Facial asymmetryHP:0000324
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Prominent glabellaHP:0002057
  • Protruding earHP:0000411
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(4)

  • Abnormal palate morphologyHP:0000174
  • Abnormal speech patternHP:0002167
  • Preauricular skin tagHP:0000384
  • Short statureHP:0004322