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Intellectual "disability," autosomal dominant 3
- ... same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak ... with the duplication have no apparent physical or intellectual disabilities. The prevalence of the 22q11.2 duplication in ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later ... month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in ...
- ... common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting ... of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). While the deleted segment in ...
- ... brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.In people with Nicolaides- ...
- ... of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, ...
- ... and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements ... development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett ...
- ... the structures that form the eye (coloboma), and intellectual disabilities. The condition is found primarily in the First ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J ...
- ... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...
- ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal ... inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered ...
