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Amelocerebrohypohidrotic syndrome

ORPHA:1946 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(11)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of dental colorHP:0011073
  • Amelogenesis imperfectaHP:0000705
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • EEG abnormalityHP:0002353
  • Mental deteriorationHP:0001268
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • SpasticityHP:0001257
  • Yellow-brown discoloration of the teethHP:0006286

Frequent (79-30%)(1)

  • HypohidrosisHP:0000966

Occasional (29-5%)(2)

  • HydrocephalusHP:0000238
  • Short statureHP:0004322