Autosomal Recessive

“Genes contain the instructions for growth and development. Some gene variations may mean that the gene does not work properly or works in a different way that is harmful. A variation in a gene that causes a health or developmental condition is called a pathogenic variant

If a genetic condition only occurs when both copies of the gene have a change in the message, this change is called a recessive variant

An autosomal gene is a gene located on a numbered chromosome and usually affects males and females in the same way.” Read More


We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.

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