developmental and epileptic encephalopathy, 50
MONDO:0014647Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 50 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 · Progressive · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal glycosylationHPOHP:0012345
- 1 of 1 reported patient
- AcanthocytosisHPOHP:0001927
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 5 of 5 reported patients
- AnisopoikilocytosisHPOHP:0004823
- 6 of 6 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 4 of 4 reported patients
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 8
- Renal tubular acidosisHPOHP:0001947
- 1 of 1 reported patient
- SchistocytosisHPOHP:0001981
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- DysphagiaHPOHP:0002015
- 3 of 4 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 5 reported patients
- Global brain atrophyHPOHP:0002283
- 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.
- CADHGNC:1424
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Illumina · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: developmental and epileptic encephalopathy, 50
- Also called
- CAD-CDGcarbohydrate deficient glycoprotein syndrome type IzCDG syndrome type IzCDG-IzCDG1Zcongenital disorder of glycosylation type 1zDEE50developmental and epileptic encephalopathy 50EIEE50epileptic encephalopathy, early infantile, 50