mental retardation, nonsyndromic autosomal recessive 6
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Genetics
- autosomal recessive form associated with defects in GRIK2 gene
Clinical manifestations
- mild to severe mental retardation
- psychomotor development delay in early childhood
- patients do not have neurologic problems, congenital malformations, or facial dysmorphism
- body height, weight, & head circumference are normal in all patients
Radiology
- magnetic resonance imaging (MRI) reveals no morphologic abnormalities