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Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
ORPHA:71267 · Malformation syndrome · Disorder
HPO 表現型（共 11 項）
Very frequent (99-80%)(11)
- Abnormal facial shapeHP:0001999
- Cone-shaped epiphysisHP:0010579
- Delayed eruption of teethHP:0000684
- Dentinogenesis imperfectaHP:0000703
- Mild intellectual disabilityHP:0001256
- OsteoporosisHP:0000939
- PlatyspondylyHP:0000926
- Prominent nasal bridgeHP:0000426
- Sensorineural hearing impairmentHP:0000407
- Short philtrumHP:0000322
- Short statureHP:0004322