developmental and epileptic encephalopathy, 82
MONDO:0032880Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 82 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
18 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.
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 4 reported patients
- HyperammonemiaHPOHP:0001987
- 4 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 4 of 4 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 4 of 4 reported patients
- Progressive microcephalyHPOHP:0000253
- 4 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients · Infantile onset
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 3 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 4 reported patients
Show the remaining 6
- Decreased body weightHPOHP:0004325
- 3 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 4 reported patients
- Inability to walkHPOHP:0002540
- 3 of 4 reported patients
- Short statureHPOHP:0004322
- 3 of 4 reported patients
- Spastic paraparesisHPOHP:0002313
- 2 of 4 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 4 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.
- GOT2HGNC:4433
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 82
- Also called
- DEE82developmental and epileptic encephalopathy 82EIEE82EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82