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Intellectual "disability," autosomal recessive 11
- ... to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and ... brain. ALG12 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature ... unknown. SIL1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur ... types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, ...
- ... developmental delays and eventual loss of developmental milestones, intellectual disabilities, seizures, tremors, and difficulty with balance and coordination ( ...
- ... children.In very rare cases, delayed development and intellectual disability have been reported in people with the features ... TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both ...
- ... most people with Aicardi-Goutières syndrome have profound intellectual disabilities. Affected babies are usually extremely irritable and do ... In most cases, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal ... in their family.CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement ... in the ARFGEF2 gene is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... syndrome. POLR3A This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... 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 ...
