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Macrocephaly-intellectual disability-autism syndrome

ORPHA:210548 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • Autistic behaviorHP:0000729
  • MacrocephalyHP:0000256

Frequent (79-30%)(3)

  • Delayed speech and language developmentHP:0000750
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270

Occasional (29-5%)(7)

  • Cafe-au-lait spotHP:0000957
  • Depressed nasal bridgeHP:0005280
  • HypotoniaHP:0001252
  • Intestinal polyposisHP:0200008
  • Multiple lipomasHP:0001012
  • Numerous neviHP:0001054
  • Penile frecklingHP:0031447

Very rare (<4-1%)(12)

  • Attention deficit hyperactivity disorderHP:0007018
  • Foot polydactylyHP:0001829
  • Frontal bossingHP:0002007
  • Hepatic steatosisHP:0001397
  • Hurthle cell thyroid adenomaHP:0006781
  • HypertelorismHP:0000316
  • Lymphoid nodular hyperplasiaHP:0032203
  • Midface retrusionHP:0011800
  • Preaxial hand polydactylyHP:0001177
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Thyroid carcinomaHP:0002890