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GENATLAS PHENOTYPE
last update : 05-02-2014
Symbol MPS3B
Location 17q21.1
Name mucopolysaccharidosis, type IIIB
Other name(s)
  • SanFilippo disease type B
  • NAGLU deficiency
    • Corresponding gene NAGLU
    Main clinical features
  • progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span, clinical severity ranges from mild to severe
  • progressive and severe mental retardation and premature death
  • severe mental defect with relatively mild somatic features (moderately severe claw hand and visceromegaly, little or no corneal clouding or skeletal, vertebral, change).; radiologic findings in the skeleton are relatively mild and include persistent biconvexity of the vertebral bodies and very thick calvaria
  • should also be considered a tauopathy (Ohmi 2009)
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Remark(s)
    Genotype/Phenotype correlations at least 86 mutations each occuring at relatively low frequencies mostly leading to a severe phenotype