OMIM = Online Medalian Inheritance of Men
  • no specific treatment
rare (50-100 cases)
autosomal recessive
mutation in the MAN2B1 gene
Type I = severe, infantile Type II = milder, juvenile/adult (rare)
cerebellar atrophy or hypoplasia
coarse facial features
corneal clouding
corneal deposits
dysostosis multiplex
early death
hearing defect, deafness
hepatomegaly (large liver)
infections (severe or recurrent)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
motor retardation
onset, childhood
onset, infancy
skeletal changes, skeletal abnormalities
speech development, delayed, abnormal
splenomegaly (large spleen)
umbilical hernia
laboratory finding
alpha-Mannosidase 100.00activityleucocytes
alpha-Mannosidase 100.00activityfibroblasts
alpha-Mannosidase 100.00activityplasma
Oligosaccharides mmol/mol creatinineurine
MRI, brain, abnormalities -
Lymphocytes, vacuoles blood
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