developmental and epileptic encephalopathy, 63
MONDO:0033372Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 63 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
32 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
- 3 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 3 of 3 reported patients
- Generalized-onset seizureHPOHP:0002197
- 2 of 3 reported patients
Show the remaining 20
- Highly arched eyebrowHPOHP:0002553
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Long philtrumHPOHP:0000343
- 2 of 3 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 3 reported patients
- Overlapping toeHPOHP:0001845
- 2 of 3 reported patients
- Recurrent infectionsHPOHP:0002719
- 2 of 3 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.
- CPLX1HGNC:2309
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 63
- Also called
- DEE63developmental and epileptic encephalopathy 63EIEE63epileptic encephalopathy, early infantile, 63