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Carney-Stratakis syndrome
ORPHA:97286 · Disease · Disorder
HPO 表現型(共 10 項)
Very frequent (99-80%)(2)
- Gastrointestinal stroma tumorHP:0100723
- ParagangliomaHP:0002668
Frequent (79-30%)(8)
- Abdominal painHP:0002027
- Cranial nerve paralysisHP:0006824
- DysphagiaHP:0002015
- Gastrointestinal hemorrhageHP:0002239
- Hearing impairmentHP:0000365
- Intestinal obstructionHP:0005214
- TinnitusHP:0000360
- Weight lossHP:0001824