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Intellectual "disability," autosomal recessive 56
- ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.People with this condition ... affected children and adults have mild to moderate intellectual disability.Most affected woman have premature ovarian failure and ...
- ... occur in primary coenzyme Q10 deficiency include seizures, intellectual disability, poor muscle tone (hypotonia), involuntary muscle contractions (dystonia), ...
- ... 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 ...
- ... The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural abnormalities in several ... 1 microdeletion. Related features can include delayed development, intellectual ... abnormalities, and neurological and psychiatric problems; however, ...
- ... epilepsy as well as mild developmental delay and intellectual disability. Only one case of the adult form has ... symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and ...
- ... ALDH4A1 PRODH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... often, the parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle ...
- ... sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and ... genes, pyruvate dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, ... CHMP1A CLP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
