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16p13.11 microdeletion syndrome

ORPHA:261236 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(4)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Severe intellectual disabilityHP:0010864
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(5)

  • Anteverted naresHP:0000463
  • Generalized-onset seizureHP:0002197
  • MicrocephalyHP:0000252
  • Short noseHP:0003196
  • Short statureHP:0004322

Occasional (29-5%)(31)

  • Abnormality of neuronal migrationHP:0002269
  • Agenesis of corpus callosumHP:0001274
  • Atresia of the external auditory canalHP:0000413
  • Atrial septal defectHP:0001631
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Compulsive behaviorsHP:0000722
  • CryptorchidismHP:0000028
  • CyclopiaHP:0009914
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EEG abnormalityHP:0002353
  • Exaggerated cupid's bowHP:0002263
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HoloprosencephalyHP:0001360
  • HypertoniaHP:0001276
  • Low-set earsHP:0000369
  • Metatarsus valgusHP:0010508
  • Pectus excavatumHP:0000767
  • Preauricular skin tagHP:0000384
  • SchizophreniaHP:0100753
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Smooth philtrumHP:0000319
  • Talipes equinovarusHP:0001762
  • Thin upper lip vermilionHP:0000219
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119
  • Wide mouthHP:0000154