developmental and epileptic encephalopathy, 30
Findings
No curated finding names developmental and epileptic encephalopathy, 30 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014595), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
7 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
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Motor stereotypyHPOHP:0000733
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 6 of 6 reported patients · Infantile onset
- Respiratory distressHPOHP:0002098
- 3 of 6 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 2 of 6 reported patients
- Feeding difficultiesHPO
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.
- SIK1HGNC:11142
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 30
- Also called
- DEE30developmental and epileptic encephalopathy 30early infantile epileptic encephalopathy caused by mutation in SIK1EIEE30epileptic encephalopathy, early infantile, 30epileptic encephalopathy, early infantile, type 30SIK1 early infantile epileptic encephalopathy