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Intellectual "disability," autosomal dominant 51
- ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
- ... Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, ... the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.Autosomal ...
- ... literature. ATP2A2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... available. Citation on PubMed Szigeti R, Kellermayer R. Autosomal-dominant calcium ATPase disorders. J Invest Dermatol. 2006 Nov; ...
- ... The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two ...
- ... a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A loss of the MSX1 gene ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 Mar;85(3): ...
- ... abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds of skin on the back ... syndrome with multiple lentigines is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... syndrome range from normal to mild or moderate intellectual disability.Individuals with Apert syndrome have syndactyly of the ... feet. FGFR2 Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals ...
- ... 2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of ... 2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy ...
- ... frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered ...
