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Details of RareLED ID 2004

Primary information
ID	2004
Disorder	Lysosomal mannosidosis
Inheritance	Autosomal recessive
Organ Affected	Liver, Kidney, Spleen,Eye
Onset	Early
Genotype-Phenotype Correlation	c.2248C>T (p.R750W), c.1830+1G>C and c.2426T>C (p.L809P), were relatively frequent, and accounted for approximately 27%, 5% and 3% respectively of the disease alleles Site : http://amamutdb.no
Refrences	27814608