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Intellectual "disability," autosomal recessive 6
- ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB 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 ...
- ... 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 ...
- ... hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and ... MYO5A RAB27A This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals.The ... cells. PSMB8 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may result in coma ... disease. SLC19A3 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 ...
- ... acetylglutamate synthase deficiency may include developmental delay and intellectual disability.In some affected individuals, signs and symptoms of ... deficiency. NAGS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also ... syndrome. DDX11 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems.Hyperprolinemia type ...
