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Ring chromosome 22 syndrome

ORPHA:1446 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Frequent (79-30%)(30)

  • 2-3 toe syndactylyHP:0004691
  • Autistic behaviorHP:0000729
  • AzoospermiaHP:0000027
  • Bulbous noseHP:0000414
  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • DolichocephalyHP:0000268
  • EdemaHP:0000969
  • EpicanthusHP:0000286
  • Full cheeksHP:0000293
  • Gait ataxiaHP:0002066
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Impaired pain sensationHP:0007328
  • Inappropriate behaviorHP:0000719
  • Large handsHP:0001176
  • Long faceHP:0000276
  • LymphedemaHP:0001004
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800
  • NeurofibromaHP:0001067
  • Pointed chinHP:0000307
  • Protruding tongueHP:0010808
  • SeizureHP:0001250
  • Thick eyebrowHP:0000574
  • Thick vermilion borderHP:0012471
  • Toenail dysplasiaHP:0100797
  • Wide nasal baseHP:0012810

Occasional (29-5%)(3)

  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Pleural effusionHP:0002202