developmental and epileptic encephalopathy, 62
MONDO:0033371Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 62 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
- Infantile onset · Neonatal onset · Childhood 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 6 of 6 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 2 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 6 reported patients
- Inability to walkHPOHP:0002540
- 2 of 6 reported patients
- PolymicrogyriaHPOHP:0002126
- 2 of 6 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 6 reported patients
- DysphagiaHPOHP:0002015
- 1 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 6 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 6 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 6 reported patients
Show the remaining 4
- MicrocephalyHPOHP:0000252
- 1 of 6 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 1 of 6 reported patients
- Absent speechHPOHP:0001344
- 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.
- SCN3AHGNC:10590
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 62
- Also called
- DEE62developmental and epileptic encephalopathy 62EIEE62epileptic encephalopathy, early infantile, 62