developmental and epileptic encephalopathy, 36
MONDO:0010472Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 36 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
49 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 bleedingHPOHP:0001892
- 1 of 1 reported patient
- Abnormal pyramidal signHPOHP:0007256
- 1 of 1 reported patient
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
Show the remaining 37
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Infantile spasmsHPOHP:0012469
- 3 of 3 reported patients
- Obligate (100% of cases)
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
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.
- ALG13HGNC:30881
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · G2P · X-linked · 2015
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2018
Where it sits
Other names
10 names
Resolves to: developmental and epileptic encephalopathy, 36
- Also called
- ALG13-CDGCDG syndrome type IsCDG-IsCDG1Scongenital disorder of glycosylation type 1scongenital disorder of glycosylation type IsDEE36developmental and epileptic encephalopathy 36EIEE36epileptic encephalopathy, early infantile, 36