developmental and epileptic encephalopathy 101
MONDO:0030727Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 101 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
- Neonatal onset
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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients · Neonatal onset
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Limb joint contractureHPOHP:0003121
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 3 of 3 reported patients
Show the remaining 4
- Third degree atrioventricular blockHPOHP:0001709
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- OpisthotonusHPOHP:0002179
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 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.
- GRIN1HGNC:4584
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 101
- Also called
- DEE101