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Summary
GLYCOGEN STORAGE DISEASE TYPE XII
GSD12
611881
OMIM = Online Medalian Inheritance of Men
57
16p11.2
rare
autosomal recessive
symptoms
anemia
dysmorphism
jaundice
mental retardation
muscle weakness
myopathy
ptosis (drooping eyelid)
puberty, delayed or missing
short stature
splenomegaly (large spleen)
laboratory finding
Creatine kinase increasedplasma
Glycogen normal-increasedliver, muscle
Bilirubin increasedplasma
Literature
Montano AMet al.International Morquio A Registry: clinical manifestation and natural course of Morquio A diseaseJ Inher Met Dis300165-1742007