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Intellectual "disability," autosomal recessive 29
- ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...
- ... in the levels of these chemicals contribute to intellectual disability in people with GTPCH1 deficiency.Tetrahydrobiopterin deficiency is ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of ...
- ... muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect the eyes.POMT1 ... G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
