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Results 1 - 1 of 1 for Intellectual "disability," autosomal recessive 34
  1. GCH1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics