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Intellectual "disability," autosomal recessive 66
- ... addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
- ... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ...
- ... 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 ...
- ... usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement ... in the ARFGEF2 gene is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... or ALX3 gene, it 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 ...
- ... 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 ...
- ... with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia). GPI deficiency ...
- ... over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing ... down. RNASET2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... gaze palsy).Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some ... syndrome. SLC12A6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...