developmental and epileptic encephalopathy 99
MONDO:0030473Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 99 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
28 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.
- Global developmental delayHPOHP:0001263
- 13 of 16 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 9 of 16 reported patients
- Perisylvian polymicrogyriaHPOHP:0012650
- 9 of 16 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 16 reported patients
- Status epilepticusHPOHP:0002133
- 8 of 16 reported patients
- Focal-onset seizureHPOHP:0007359
- 7 of 16 reported patients
- Multifocal seizuresHPOHP:0031165
- 3 of 16 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 16 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 16 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 16 reported patients
- Frontotemporal cerebral atrophyHPOHP:0006892
- 2 of 16 reported patients
- Hip dysplasiaHPOHP:0001385
- 2 of 16 reported patients
Show the remaining 16
- Thick corpus callosumHPOHP:0007074
- 2 of 16 reported patients
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 1 of 16 reported patients
- Central apneaHPOHP:0002871
- 1 of 16 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 16 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 16 reported patients
- DroolingHPOHP:0002307
- 1 of 16 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.
- ATP1A3HGNC:801
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 99
- Also called
- DEE99