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developmental and epileptic encephalopathy, 40 | RareConnect | RareConnect.io

/infantile spasms

/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 40

developmental and epileptic encephalopathy, 40

Rare Disease

MONDO:0014895

Also Known As

DEE40EIEE40GUF1 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 40early infantile epileptic encephalopathy caused by mutation in GUF1epileptic encephalopathy, early infantile, 40epileptic encephalopathy, early infantile, 40; EIEE40epileptic encephalopathy, early infantile, type 40

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 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:617065 ↗

GARD

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