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developmental and epileptic encephalopathy, 38 | RareConnect | RareConnect.io

/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 38

developmental and epileptic encephalopathy, 38

Rare Disease

MONDO:0014868

Also Known As

ARV1 early infantile epileptic encephalopathyDEE38EIEE38developmental and epileptic encephalopathy 38early infantile epileptic encephalopathy caused by mutation in ARV1epileptic encephalopathy, early infantile, 38epileptic encephalopathy, early infantile, 38; EIEE38epileptic encephalopathy, early infantile, type 38

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.

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:617020 ↗

GARD

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