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developmental and epileptic encephalopathy, 48 | RareConnect | RareConnect.io

/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 48

developmental and epileptic encephalopathy, 48

Rare Disease

MONDO:0015000

Also Known As

AP3B2 early infantile epileptic encephalopathyDEE48EIEE48developmental and epileptic encephalopathy 48early infantile epileptic encephalopathy caused by mutation in AP3B2epileptic encephalopathy, early infantile, 48epileptic encephalopathy, early infantile, 48; EIEE48epileptic encephalopathy, early infantile, type 48

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 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:617276 ↗

GARD

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