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Intellectual "disability," autosomal recessive 11
- ... j.bbalip.2012.01.004. Epub 2012 Jan 11. Citation on PubMed ... autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... of the brain are also affected, resulting in intellectual disability and the other major features of this condition. More About This Health Condition ... A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
- ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j. ...
- ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j. ...
- ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Citation on PubMed ...
- ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive ... In: Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Citation on ...
- ... This condition is characterized by progressive movement problems, intellectual disability, and vision problems. Many of the ZFYVE26 gene ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum ...
- ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum ...
- ... 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 ...
