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Intellectual "disability," autosomal recessive 14
- ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
- ... 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 ...
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
- ... 1 and 2. J Biol Chem. 2006 Jul 14;281(28):19339-45. doi: ... An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
