developmental and epileptic encephalopathy 97
MONDO:0030453Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 97 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
HPO, annotations 2026-09-02
Features
18 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.
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 5 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Delayed ability to crawlHPOHP:0033128
- 3 of 4 reported patients
- Delayed ability to roll overHPOHP:0032989
- 2 of 3 reported patients
- Delayed ability to sitHPOHP:0025336
- 3 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 5 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 3 of 5 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 5 reported patients
- Poor head controlHPOHP:0002421
- 2 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 5 reported patients
Show the remaining 6
- Inability to walkHPOHP:0002540
- 2 of 5 reported patients
- Epileptic spasmHPOHP:0011097
- 1 of 5 reported patients
- NystagmusHPOHP:0000639
- 1 of 5 reported patients
- Stereotypical hand wringingHPOHP:0012171
- 1 of 5 reported patients
- TremorHPOHP:0001337
- 1 of 5 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 5 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.
- CELF2HGNC:2550
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 97
- Also called
- DEE97