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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( ...
- ... addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
- ... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic ...
- ... generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some people with congenital generalized ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Finnish type National Organization for Rare Disorders ( ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
