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Proximal 16p11.2 microdeletion syndrome

ORPHA:261197 · Malformation syndrome · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(3)

  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Global developmental delayHP:0001263

Frequent (79-30%)(11)

  • Attention deficit hyperactivity disorderHP:0007018
  • Brain imaging abnormalityHP:0410263
  • Delayed speech and language developmentHP:0000750
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Mild intellectual disabilityHP:0001256
  • Moderate receptive language delayHP:0011351
  • Motor delayHP:0001270
  • Severe expressive language delayHP:0006863
  • Specific learning disabilityHP:0001328
  • Speech articulation difficultiesHP:0009088

Occasional (29-5%)(29)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal facial shapeHP:0001999
  • Abnormal heart morphologyHP:0001627
  • Abnormal vertebral morphologyHP:0003468
  • Arachnoid cystHP:0100702
  • Atrial septal defectHP:0001631
  • AutismHP:0000717
  • Broad foreheadHP:0000337
  • Chiari type I malformationHP:0007099
  • ChoreoathetosisHP:0001266
  • Conductive hearing impairmentHP:0000405
  • DystoniaHP:0001332
  • Enlarged cisterna magnaHP:0002280
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Motor stereotypyHP:0000733
  • ObesityHP:0001513
  • Paroxysmal dyskinesiaHP:0007166
  • PlatybasiaHP:0002691
  • Reduced social responsivenessHP:0012760
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Speech apraxiaHP:0011098
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(9)

  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • CraniosynostosisHP:0001363
  • DextrocardiaHP:0001651
  • Hand polydactylyHP:0001161
  • Multicystic kidney dysplasiaHP:0000003
  • Pyloric stenosisHP:0002021
  • Rib fusionHP:0000902
  • SyringomyeliaHP:0003396