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Intellectual "disability," autosomal recessive 45
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... syndrome Micro syndrome National Organization for Rare ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
- ... Biol Chem. 2006 Jul 14;281(28):19339-45. doi: 10.1074/jbc.M601091200. Epub 2006 May 12. Citation on PubMed Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
- ... the mouth (cleft palate), distinctive facial features, and intellectual disability.The eye problems in Peters plus syndrome occur ... Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although ...
- ... with tyrosinemia type II have some degree of intellectual disability.Tyrosinemia type III is the rarest of the ... types. The characteristic features of this type include intellectual disabilities, seizures, and periodic loss of balance and coordination ( ...
- ... seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot. Children ... coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that worsen over time. People with this form ...
- ... in their family.CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills ... patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... are affected, abnormal brain development can lead to intellectual disability and other neurological problems.The third major feature ... families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies ...
