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21q22.11q22.12 microdeletion syndrome

ORPHA:261323 · Malformation syndrome · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(1)

  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(18)

  • Abnormal facial shapeHP:0001999
  • Absent speechHP:0001344
  • Atypical behaviorHP:0000708
  • BrachydactylyHP:0001156
  • Bulbous noseHP:0000414
  • CamptodactylyHP:0012385
  • ClinodactylyHP:0030084
  • Coarse facial featuresHP:0000280
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Postnatal growth retardationHP:0008897
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • Sleep-wake cycle disturbanceHP:0006979
  • Small nailHP:0001792

Occasional (29-5%)(40)

  • AcromesomeliaHP:0003086
  • Agenesis of corpus callosumHP:0001274
  • Almond-shaped palpebral fissureHP:0007874
  • AnemiaHP:0001903
  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • BruxismHP:0003763
  • Cone-shaped epiphyses of the phalanges of the handHP:0010230
  • Delayed skeletal maturationHP:0002750
  • Dental crowdingHP:0000678
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • DroolingHP:0002307
  • Dry skinHP:0000958
  • Floppy infantHP:0008947
  • HyperactivityHP:0000752
  • HypertelorismHP:0000316
  • Hypoplastic nipplesHP:0002557
  • Inappropriate cryingHP:0030215
  • Low-set earsHP:0000369
  • MicrotiaHP:0008551
  • Midface retrusionHP:0011800
  • Nail dystrophyHP:0008404
  • Periorbital hyperpigmentationHP:0001106
  • Poor speechHP:0002465
  • Recurrent otitis mediaHP:0000403
  • Round faceHP:0000311
  • Sacral dimpleHP:0000960
  • ScaphocephalyHP:0030799
  • Self-injurious behaviorHP:0100716
  • Short palpebral fissureHP:0012745
  • Short proximal phalanx of the 2nd fingerHP:0009597
  • Short proximal phalanx of the 5th fingerHP:0009226
  • Smooth philtrumHP:0000319
  • Stereotypical body rockingHP:0012172
  • StrabismusHP:0000486
  • Thick lower lip vermilionHP:0000179
  • Thick vermilion borderHP:0012471
  • Thin upper lip vermilionHP:0000219
  • Tongue thrustingHP:0100703