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Intellectual developmental "disorder," autosomal recessive 72
- ... 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 ...
- ... recessive spastic paraplegia type 49 Spastic paraplegia 49, autosomal recessive SPG49 ... Covone AE, Fiorillo C, Acquaviva ...
- ... a possible new syndrome. Clin Genet. 2007 Oct;72(4):329-38. doi: ... inheritance involving a microdeletion in thrombocytopenia-absent radius ...
- ... a gene found in nuclear DNA, it has autosomal recessive or X-linked inheritance. Autosomal recessive means that both copies of the gene in ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... involved. PLA2G6 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 mutated ...
- ... malabsorption. SLC46A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
