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Details of RareLED ID 2011

Primary information
ID	2011
Disorder	Sanfilippo syndrome type B
Inheritance	Autosomal recessive
Organ Affected	Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Nervous System
Onset	Early
Genotype-Phenotype Correlation	p.R74C, p.R245H ,substitution of the small R group of serine with the aromatic R group of tryptophan would thus be predicted to interfere with the active site, and studies of this variant demonstrated a compromise between stability and activity. Y140C, Y455C, P521L, S612G, and R674C), two nonsense mutations (W675X and Q706X) are a few reported mutations.
Refrences	19416848 9443875