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Intellectual "disability," autosomal recessive 1
- ... 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 ...
- ... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...
- ... 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 ...
- ... 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. ...
- ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Erratum In: ...
- ... brain damage.Additionally, a reduction in GTP cyclohydrolase 1 activity disrupts ... in people with GTPCH1 deficiency.Tetrahydrobiopterin deficiency is ...
- ... TMCO1 PubMed ... E, Sagiroglu MS, Yuksel B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 ...
- ... muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, ... 1 dolichyl-phosphate-mannose-protein mannosyltransferase LGMD2K MDDGA1 MDDGB1 ...
