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Trisomy 20p syndrome

ORPHA:261318 · Malformation syndrome · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(17)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal facial shapeHP:0001999
  • Abnormal speech patternHP:0002167
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of chromosome segregationHP:0002916
  • Cognitive impairmentHP:0100543
  • Full cheeksHP:0000293
  • Gait disturbanceHP:0001288
  • HerniaHP:0100790
  • Highly arched eyebrowHP:0002553
  • HypotoniaHP:0001252
  • IncoordinationHP:0002311
  • Joint hypermobilityHP:0001382
  • Protruding earHP:0000411
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Thick eyebrowHP:0000574

Frequent (79-30%)(25)

  • Abnormal foot morphologyHP:0001760
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal palate morphologyHP:0000174
  • Abnormality of the dentitionHP:0000164
  • Anteverted naresHP:0000463
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Coarse hairHP:0002208
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Low anterior hairlineHP:0000294
  • Low posterior hairlineHP:0002162
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • PlagiocephalyHP:0001357
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196
  • Spina bifidaHP:0002414
  • StrabismusHP:0000486
  • TalipesHP:0001883
  • Thick hairHP:0100874
  • Umbilical herniaHP:0001537
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(29)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal localization of kidneyHP:0100542
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the ureterHP:0000069
  • BlepharophimosisHP:0000581
  • Camptodactyly of fingerHP:0100490
  • CryptorchidismHP:0000028
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • Ectopic anusHP:0004397
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • HydronephrosisHP:0000126
  • HypospadiasHP:0000047
  • KyphosisHP:0002808
  • MacroorchidismHP:0000053
  • MicrodontiaHP:0000691
  • Multiple renal cystsHP:0005562
  • PlatyspondylyHP:0000926
  • Preaxial hand polydactylyHP:0001177
  • Reduced bone mineral densityHP:0004349
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322
  • Smooth philtrumHP:0000319
  • Thin vermilion borderHP:0000233
  • Vertebral segmentation defectHP:0003422
  • Wide intermamillary distanceHP:0006610