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Details of RareLED ID 2043

Primary information
ID	2043
Disorder	Multiple sulphatase deficiency (C?-formylglycine-generating enzyme)
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Skin, Bone
Onset	Early
Genotype-Phenotype Correlation	The mildest phenotype presented in the patient with FGE G263V, which is associated with the highest residual FGE activity.FGE G263V, though present at only rather low intracellular levels, can be assumed to truly perform this residual activity.
Refrences	21224894