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Intellectual "disability," autosomal recessive 1
- ... 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 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Hennekam lymphangiectasia-lymphedema syndrome 2 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... MARTSOLF SYNDROME 1; MARTS1 WARBURG MICRO SYNDROME 1; WARBM1 WARBURG MICRO ...
- ... 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 ...
- ... other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ...
