developmental and epileptic encephalopathy, 51
Findings
No curated finding names developmental and epileptic encephalopathy, 51 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0015025), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Delayed ability to crawlHPOHP:0033128
- 3 of 3 reported patients
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPO
Show the remaining 22
- Babinski signHPOHP:0003487
- 2 of 3 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 2 of 3 reported patients
- ConstipationHPOHP:0002019
- 2 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 3 reported patients
- DystoniaHPOHP:0001332
- 2 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MDH2HGNC:6971
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 51
- Also called
- DEE51developmental and epileptic encephalopathy 51early infantile epileptic encephalopathy caused by mutation in MDH2EIEE51epileptic encephalopathy, early infantile, 51epileptic encephalopathy, early infantile, 51; EIEE51epileptic encephalopathy, early infantile, type 51MDH2 early infantile epileptic encephalopathy