developmental and epileptic encephalopathy, 21
Findings
No curated finding names developmental and epileptic encephalopathy, 21 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 NECAP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014360), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Brain atrophyHPOHP:0012444
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 4 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients · Congenital onset
- Generalized tonic seizureHPO
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.
- NECAP1HGNC:24539
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 21
- Also called
- DEE21developmental and epileptic encephalopathy 21early infantile epileptic encephalopathy caused by mutation in NECAP1EIEE21epileptic encephalopathy, early infantile, 21epileptic encephalopathy, early infantile, type 21NECAP1 early infantile epileptic encephalopathy