Engelsk substantiv: infantile amaurotic idiocy | |||
1. | infantile amaurotic idiocy (om tilstand) a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood | ||
Ord med samme betydning (synonymer) | Sachs disease, Tay-Sachs, Tay-Sachs disease | ||
Mindre spesifikke uttrykk | autosomal recessive defect, autosomal recessive disease, lipidosis, monogenic disease, monogenic disorder | ||