developmental and epileptic encephalopathy, 61
MONDO:0033370Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 61 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
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
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Focal clonic seizureHPOHP:0002266
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Open mouthHPOHP:0000194
- 1 of 1 reported patient
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
Show the remaining 4
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
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.
- ADAM22HGNC:201
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 61
- Also called
- DEE61developmental and epileptic encephalopathy 61EIEE61epileptic encephalopathy, early infantile, 61