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AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

ORPHA:412069 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(5)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270

Frequent (79-30%)(15)

  • Abnormal brain morphologyHP:0012443
  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal facial shapeHP:0001999
  • Abnormality of the vertebral columnHP:0000925
  • AtaxiaHP:0001251
  • Delayed ability to walkHP:0031936
  • Expressive language delayHP:0002474
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Joint hypermobilityHP:0001382
  • Obstructive sleep apneaHP:0002870
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Upbeat nystagmusHP:0011477
  • Upper airway obstructionHP:0002781

Occasional (29-5%)(25)

  • AutismHP:0000717
  • Cerebral visual impairmentHP:0100704
  • CraniosynostosisHP:0001363
  • Deeply set eyeHP:0000490
  • Delayed myelinationHP:0012448
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EEG abnormalityHP:0002353
  • EsotropiaHP:0000565
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • LaryngomalaciaHP:0001601
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Mild myopiaHP:0025573
  • Protruding earHP:0000411
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Retrocerebellar cystHP:0006951
  • ScoliosisHP:0002650
  • Small earlobeHP:0000385
  • SnoringHP:0025267
  • TracheomalaciaHP:0002779
  • Uplifted earlobeHP:0009909
  • Upslanted palpebral fissureHP:0000582