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Intellectual "disability," autosomal recessive 42
- ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive ... Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub ...
- ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human ...