Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2029

Primary information
ID	2029
Disorder	Mucopolysaccharidosis 9 (MPS9) Natowicz
Inheritance	Autosomal recessive
Organ Affected	Nose,Bones,Skin
Onset	Early
Genotype-Phenotype Correlation	c.104delT, resulting in a premature termination codon, p.Val35AlafsX25, found in all three affected children, single patient reported till date
Refrences	21559944