The Scripps Idiopathic Diseases of huMan (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review.

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Findings:

ADCY5-Related Dyskinesia

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adcy5.org
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KCNB1-related early infantile epileptic encephalopathy

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kcnb1
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calista
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