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Definition

A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Most MRT53 patients manifest severely delayed psychomotor development, hypotonia, and early-onset seizures. Additional features, such as cerebellar hypoplasia and ataxia have been observed in some patients.

Acronym

MRT53

Synonyms

Glycosylphosphatidylinositol biosynthesis defect 13
GPIBD13

Keywords

Mental retardation