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Details of RareLED ID 2002

Primary information
ID	2002
Disorder	Fucosidoses
Inheritance	Autosomal recessive
Organ Affected	Ear,Nose,Eye,Bones,Nervous System,Lungs,Nervous System,Heart
Onset	Early
Genotype-Phenotype Correlation	Inactivating Mutations : Q77X,E113fs, P141fs,K151fs, W183fs,W183X, Y211X, S21Gfs, E253fs,S265fs inactivating Splice-site Mutations: Y330fs,A 66bp duplication of nucleotides 1030 to 1095 of Exon6, E375X, W382X, G401X, Q422X, Deletion of Exon 4, Hoozygous Deletion of exon 7 and 8
Refrences	10094192