Definitions
GNU Webster's 1913
- n. (Med.) A rare hereditary disease affecting lipid metabolism in humans, due to a deficiency of hexosaminidase. It occurs in infants and children, and causes death before the onset of adulthood. It occurs most commonly of people of Jewish origin from easter Europe. It is characterized by accumulation of lipids in nervous tissue, causes a red spot on the retina, and eventual blindness and paralysis before death.
WordNet 3.0
- n. 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
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Congenital Conditions
(moved here from Pregnant with Possibilities (Including Complications).
pterygolymphangie..., turner syndrome, duncan disease, x-linked lymphopr..., velocardiofacial ..., tuberous sclerosis, smith-lemli-opitz..., hutchinson-gilfor..., progeria, osteogenesis impe..., klippel-feil synd..., hypotonia and 73 more...
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