Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

developmental and epileptic encephalopathy, 33 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 33

developmental and epileptic encephalopathy, 33

Rare Disease

MONDO:0014625

Also Known As

DEE33EEF1A2 early infantile epileptic encephalopathyEEF1A2-Related Neurodevelopmental DisorderEEF1A2-related neurodevelopmental disorderEIEE33developmental and epileptic encephalopathy 33early infantile epileptic encephalopathy caused by mutation in EEF1A2epileptic encephalopathy, early infantile, 33epileptic encephalopathy, early infantile, type 33

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616409 ↗

GARD

Related Diseases

developmental and epileptic encephalopathy, 39

MONDO:0013056

developmental and epileptic encephalopathy, 12

MONDO:0013389

developmental and epileptic encephalopathy, 13

MONDO:0013801

developmental and epileptic encephalopathy, 16

MONDO:0014133

developmental and epileptic encephalopathy, 21

MONDO:0014360

developmental and epileptic encephalopathy, 24

MONDO:0014377

← Back to All Diseases