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Details of RareLED ID 2038

Primary information
ID	2038
Disorder	Sialidosis (mucolipidosis type I)
Inheritance	Autosomal recessive
Organ Affected	Head,Nose,Bones,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,Heart
Onset	Adult
Genotype-Phenotype Correlation	composite heterozygous mutations c.700G>A (p.D234N) exon 4, c.1021C>T(p.R341X) exon 5:production of a truncated protein
Refrences	25323282