developmental and epileptic encephalopathy 102
MONDO:0030881Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 102 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 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
- 10 of 10 reported patients
- Axial hypotoniaHPOHP:0008936
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- Inability to walkHPOHP:0002540
- 9 of 10 reported patients
- Visual impairmentHPOHP:0000505
- 9 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 10 reported patients
- Chronic constipationHPOHP:0012450
- 7 of 10 reported patients
- Atypical behaviorHPOHP:0000708
- 6 of 10 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 5 of 10 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 10 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 8 reported patients
Show the remaining 9
- Tonic seizureHPOHP:0032792
- 2 of 8 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 10 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 8 reported patients
- Focal emotional seizure with laughingHPOHP:0010821
- 1 of 8 reported patients
- Focal motor status epilepticusHPOHP:0032663
- 1 of 8 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 1 of 8 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.
- SLC38A3HGNC:18044
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 102
- Also called
- DEE102