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Seckel Syndrome - Glossary

Medically Reviewed by dr. simi paknikar, MD on Oct 21, 2020


Glossary

Seckel syndrome: This is a rare genetic disorder, where the individual has a small head, birdlike facial features, and short build.


Autosomal recessive disorder: There are 2 copies (one paternal and one maternal) of genes in each individual. When one gene copy is mutated or missing and if there is no effect on the normal development of the individual, such a gene is called a recessive gene. When both the copies of a recessive gene are altered (mutated or missing) in the autosomal chromosomes, there is an effect on the normal development and this is termed an autosomal recessive disorder.

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