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developmental and epileptic encephalopathy, 49 | RareConnect | RareConnect.io

/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 49

developmental and epileptic encephalopathy, 49

Rare Disease

MONDO:0015002

Also Known As

DEE49DENND5A early infantile epileptic encephalopathyEIEE49developmental and epileptic encephalopathy 49early infantile epileptic encephalopathy caused by mutation in DENND5Aepileptic encephalopathy, early infantile, 49epileptic encephalopathy, early infantile, 49; EIEE49epileptic encephalopathy, early infantile, type 49

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A 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:617281 ↗

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