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/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 37

developmental and epileptic encephalopathy, 37

Rare Disease

MONDO:0014859

Also Known As

DEE37EIEE37FRRS1L early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 37early infantile epileptic encephalopathy caused by mutation in FRRS1Lepileptic encephalopathy, early infantile, 37epileptic encephalopathy, early infantile, 37; EIEE37epileptic encephalopathy, early infantile, type 37

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L 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:616981 ↗

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developmental and epileptic encephalopathy, 37 | RareConnect | RareConnect.io