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Muscular pseudohypertrophy-hypothyroidism syndrome
ORPHA:2349 · Disease · Disorder
HPO 表現型（共 15 項）
Very frequent (99-80%)(15)
- Abnormal speech patternHP:0002167
- Coarse facial featuresHP:0000280
- Cognitive impairmentHP:0100543
- ConstipationHP:0002019
- Gait disturbanceHP:0001288
- HypothyroidismHP:0000821
- JaundiceHP:0000952
- MacroglossiaHP:0000158
- Muscle weaknessHP:0001324
- MyalgiaHP:0003326
- MyopathyHP:0003198
- Short statureHP:0004322
- Skeletal muscle hypertrophyHP:0003712
- Sleep disturbanceHP:0002360
- Umbilical herniaHP:0001537