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2p21 microdeletion syndrome

ORPHA:163693 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(14)

  • CystinuriaHP:0003131
  • Depressed nasal bridgeHP:0005280
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hypernasal speechHP:0001611
  • HypogonadismHP:0000135
  • HypotoniaHP:0001252
  • Kidney stoneHP:0000787
  • Long eyelashesHP:0000527
  • Mitochondrial respiratory chain defectsHP:0200125
  • Moderate intellectual disabilityHP:0002342
  • Posteriorly rotated earsHP:0000358

Frequent (79-30%)(3)

  • HypocalcemiaHP:0002901
  • Lactic acidosisHP:0003128
  • SeizureHP:0001250

Occasional (29-5%)(2)

  • Decreased fetal movementHP:0001558
  • HypoglycemiaHP:0001943