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Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(12)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal nostril morphologyHP:0005288
  • Aplastic/hypoplastic toenailHP:0010624
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • HypertelorismHP:0000316
  • Hypopigmented skin patchesHP:0001053
  • Hypoplasia of the zygomatic boneHP:0010669
  • Short distal phalanx of fingerHP:0009882
  • Short noseHP:0003196
  • TelecanthusHP:0000506
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(7)

  • AnosmiaHP:0000458
  • Bifid scrotumHP:0000048
  • Genu valgumHP:0002857
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of penisHP:0008736
  • Joint stiffnessHP:0001387
  • SynophrysHP:0000664