developmental and epileptic encephalopathy, 49
Findings
No curated finding names developmental and epileptic encephalopathy, 49 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.
Definition from the Mondo Disease Ontology (MONDO:0015002), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
33 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 3 reported patients
- Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
- EEG abnormalityHPOHP:0002353
- 3 of 3 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 3 of 3 reported patients
- Long eyelashesHPOHP:0000527
- 3 of 3 reported patients
- MacrotiaHPOHP:0000400
Show the remaining 21
- Tented upper lip vermilionHPOHP:0010804
- 3 of 3 reported patients
- Thick eyebrowHPOHP:0000574
- 3 of 3 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 2 of 3 reported patients
- Clonic seizureHPOHP:0020221
- 2 of 3 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 2 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 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.
- DENND5AHGNC:19344
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · Baylor College of Medicine Research Center · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 49
- Also called
- DEE49DENND5A early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 49early infantile epileptic encephalopathy caused by mutation in DENND5AEIEE49epileptic encephalopathy, early infantile, 49epileptic encephalopathy, early infantile, 49; EIEE49epileptic encephalopathy, early infantile, type 49