Results 61 -
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142
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Intellectual "disability," autosomal recessive 6
- ... this condition typically have only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with ... type 2B usually have macrocephaly and may have intellectual disability. Megalencephalic leukoencephalopathy with subcortical cysts is a rare ...
- ... apraxia, but some people with the condition have intellectual disability. Ataxia with oculomotor apraxia is a rare condition. ... types of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... of intestinal pseudo-obstruction are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the ... by BIN1 gene mutations are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some ... KIF7 gene mutations, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ( ...
- ... are affected, abnormal brain development can lead to intellectual disabilities and other behavioral and neurological problems, including recurrent ... families. Some familial cases appear to have an autosomal recessive pattern of inheritance, which means both copies of ...
- ... children usually begin to have delayed speech, mild intellectual disability, and problems coordinating movements. Other features that develop ... spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. Most people ...
- ... have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 ... deficiency. ACY1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle ...
