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Intellectual "disability," autosomal recessive 59
- ... generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some people with congenital generalized ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia 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 ...
- ... lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs ...
- ... by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected ... cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. Smith-Lemli-Opitz syndrome ...
- ... 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 ...
- ... the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, ... IV. MCOLN1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with the intermediate form survive into ... PEX5 PEX6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... ganglia, which are regions that help control movement. Intellectual disability may also occur.The severity of glutaric acidemia ... I. GCDH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... functioning. OAT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
