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Lethal recessive chondrodysplasia

ORPHA:1423 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Obligate (100%)(6)

  • Accelerated skeletal maturationHP:0005616
  • Flared elbow metaphysesHP:0003950
  • Generalized osteosclerosisHP:0005789
  • Limb undergrowthHP:0009826
  • Narrow chestHP:0000774
  • Short long boneHP:0003026

Very frequent (99-80%)(2)

  • MicrognathiaHP:0000347
  • PolyhydramniosHP:0001561

Frequent (79-30%)(4)

  • EdemaHP:0000969
  • MacroglossiaHP:0000158
  • MicromeliaHP:0002983
  • Respiratory distressHP:0002098