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myoclonus, familial, 2 | RareConnect | RareConnect.io

/myoclonus, familial

/myoclonus, familial, 2

myoclonus, familial, 2

Rare Disease

MONDO:0100092

Also Known As

MYOCL2

Definition

Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:618364 ↗

Related Diseases

myoclonus, familial, 1

MONDO:0100093

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