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Pili torti-developmental delay-neurological abnormalities syndrome

ORPHA:2891 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(8)

  • Abnormality of hair textureHP:0010719
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • AtaxiaHP:0001251
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Joint hypermobilityHP:0001382
  • Pili tortiHP:0003777
  • Sparse or absent eyelashesHP:0200102

Frequent (79-30%)(2)

  • Gait disturbanceHP:0001288
  • HypotoniaHP:0001252