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Intellectual "disability," autosomal recessive 23
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
- ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
- ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically ... Genetic Testing Registry: Woodhouse-Sakati syndrome ...
- ... 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 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
- Bardet-Biedl Syndrome (Foundation Fighting Blindness)Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
