Schwartz-Jampel syndrome with dominant inheritance.
Spaans
F
F
D000200:Action Potentials; D006801:Humans; D009046:Motor Neurons / Q000502:physiology*; D009132:Muscles / Q000294:innervation*; D010009:Osteochondrodysplasias / Q000235:genetics / Q000503:physiopathology*