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Details of RareLED ID 2033

Primary information
ID	2033
Disorder	Aspartylglucosaminuria
Inheritance	Autosomal recessive
Organ Affected	Heart,Muscle,Bones,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head
Onset	Early
Genotype-Phenotype Correlation	R161Q, C163S: novel restriction endonuclease sites in Finnish Population
Refrences	2011603 27906067