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Details of RareLED ID 2032

Primary information
ID	2032
Disorder	MPS type 7
Inheritance	Autosomal recessive
Organ Affected	Eye, Brain, Liver, Spleen, Bones, delayed speech
Onset	Early
Genotype-Phenotype Correlation	missense polymorphism p.Asp152Asn producing a pseudodeficiency allele that leads to greatly reduced levels of beta-glucuronidase activity (27% of the control) without apparent deleterious consequences
Refrences	30442161