Genetic Conditions

Browse our database of genetic conditions with information from GeneReviews.

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Inheritance Patterns

AD Autosomal Dominant

AR Autosomal Recessive

XL X-Linked

MF Multifactorial

Metabolic AR

Phenylketonuria (PKU)

Gene: PAH

A metabolic disorder preventing breakdown of phenylalanine. Without dietary treatment, causes intellectual disability. Highly treatable with early diagnosis.

Treatment Available

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