developmental and epileptic encephalopathy, 83
MONDO:0032895Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 83 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
31 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
- 18 of 18 reported patients · Infantile onset
- Axial hypotoniaHPOHP:0008936
- 17 of 17 reported patients
- Persistent head lagHPOHP:0032988
- 18 of 18 reported patients · Infantile onset
- SeizureHPOHP:0001250
- 18 of 18 reported patients
- Severe global developmental delayHPOHP:0011344
- 18 of 18 reported patients · Infantile onset
- Reduced eye contactHPOHP:0000817
- 16 of 17 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 15 of 17 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 9 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 12 of 18 reported patients
- HyperreflexiaHPOHP:0001347
- 11 of 17 reported patients
- Chronic constipationHPOHP:0012450
- 7 of 17 reported patients
- SpasticityHPOHP:0001257
- 7 of 18 reported patients
Show the remaining 19
- Depressed nasal bridgeHPOHP:0005280
- 6 of 16 reported patients
- High anterior hairlineHPOHP:0009890
- 5 of 14 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 14 reported patients
- Genu valgumHPOHP:0002857
- 4 of 12 reported patients
- Low-set earsHPOHP:0000369
- 4 of 13 reported patients
- Highly arched eyebrowHPOHP:0002553
- 4 of 14 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.
- UGP2HGNC:12527
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 83
- Also called
- DEE83developmental and epileptic encephalopathy 83EIEE83EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83