developmental and epileptic encephalopathy, 88
MONDO:0030072Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 88 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Axial hypotoniaHPOHP:0008936
- Depressed nasal bridgeHPOHP:0005280
- Epileptic encephalopathyHPOHP:0200134
- Everted lower lip vermilionHPOHP:0000232
- Global developmental delayHPOHP:0001263
- Growth delayHPOHP:0001510
- High foreheadHPOHP:0000348
- HyperglutamatemiaHPOHP:0500149
- HypertoniaHPOHP:0001276
- Hypoplasia of the ponsHPOHP:0012110
- HypsarrhythmiaHPOHP:0002521
- Inferior cerebellar vermis hypoplasiaHPOHP:0007068
Show the remaining 4
- Infra-orbital creaseHPOHP:0100876
- Partial agenesis of the corpus callosumHPOHP:0001338
- Progressive microcephalyHPOHP:0000253
- SeizureHPOHP:0001250
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.
- MDH1HGNC:6970
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 88
- Also called
- DEE88developmental and epileptic encephalopathy 88EIEE88EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88