Familial dysautonomia is a rare autosomal recessive disorder characterized by a mutation in a gene the plays a role in

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Familial dysautonomia is caused by a mutation in the IKBKAP gene, which plays a role in transcript elongation, particularly in the nervous system. This mutation affects the normal development and survival of certain nerve cells, leading to the symptoms of the disorder.

Familial Dysautonomia Is a Rare Autosomal Recessive Disorder Characterized by a Mutation