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developmental and epileptic encephalopathy, 44 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 44

developmental and epileptic encephalopathy, 44

Rare Disease

MONDO:0014933

Also Known As

DEE44EIEE44UBA5 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 44early infantile epileptic encephalopathy caused by mutation in UBA5epileptic encephalopathy, early infantile, 44epileptic encephalopathy, early infantile, 44; EIEE44epileptic encephalopathy, early infantile, type 44

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 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:617132 ↗

GARD

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