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Intellectual "disability," autosomal recessive 50
- ... constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and ... family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the ...
- ... People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop ... brain. GATM This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching ... unknown. ST3GAL5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.Gyrate atrophy may ... functioning. OAT This condition 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 ...
- ... judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically ... CCFDN. CTDP1 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 ...
- ... tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial ...
- ... associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ...
- ... down. RNASET2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...