developmental and epileptic encephalopathy, 46
Findings
No curated finding names developmental and epileptic encephalopathy, 46 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 GRIN2D gene.
Definition from the Mondo Disease Ontology (MONDO:0014947), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · 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.
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Limb hypertoniaHPOHP:0002509
- 2 of 2 reported patients
- Pes planusHPOHP:0001763
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
Show the remaining 4
- Generalized-onset seizureHPOHP:0002197
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- TremorHPOHP:0001337
- 1 of 2 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.
- GRIN2DHGNC:4588
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
11 names
Resolves to: developmental and epileptic encephalopathy, 46
- Also called
- DEE46developmental and epileptic encephalopathy 46early infantile epileptic encephalopathy caused by mutation in GRIN2DEIEE46epileptic encephalopathy, early infantile, 46epileptic encephalopathy, early infantile, 46; EIEE46epileptic encephalopathy, early infantile, type 46GRIN2D early infantile epileptic encephalopathyGRIN2D-related complex neurodevelopmental disorderGRIN2D-related DEEGRIN2D-related developmental and epileptic encephalopathy