← 返回搜尋

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(19)

  • AchalasiaHP:0002571
  • Death in early adulthoodHP:0100613
  • DysphagiaHP:0002015
  • Femoral retroversionHP:0008796
  • Generalized dystoniaHP:0007325
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Hypoplastic scapulaeHP:0000882
  • ImmunodeficiencyHP:0002721
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • MacroglossiaHP:0000158
  • Mental deteriorationHP:0001268
  • MicromeliaHP:0002983
  • Orofacial cleftHP:0000202
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • BlindnessHP:0000618
  • CataractHP:0000518