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, 51 | RareConnect | RareConnect.io

/genetic developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 51

developmental and epileptic encephalopathy, 51

Rare Disease

MONDO:0015025

Also Known As

DEE51EIEE51MDH2 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 51early infantile epileptic encephalopathy caused by mutation in MDH2epileptic encephalopathy, early infantile, 51epileptic encephalopathy, early infantile, 51; EIEE51epileptic encephalopathy, early infantile, type 51

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 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:617339 ↗

Related Diseases

developmental and epileptic encephalopathy, 9

MONDO:0010246

developmental and epileptic encephalopathy, 8

MONDO:0010375

developmental and epileptic encephalopathy, 2

MONDO:0010396

multiple congenital anomalies-hypotonia-seizures syndrome 2

MONDO:0010466

developmental and epileptic encephalopathy, 36

MONDO:0010472

developmental and epileptic encephalopathy, 1

MONDO:0010632

← Back to All Diseases