developmental and epileptic encephalopathy, 76
MONDO:0032768Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 76 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
- Death in childhood
HPO, annotations 2026-09-02
Features
16 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
- 8 of 8 reported patients
- Axial hypotoniaHPOHP:0008936
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- SeizureHPOHP:0001250
- 11 of 11 reported patients · Infantile onset
- Inability to walkHPOHP:0002540
- 7 of 8 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 9 of 11 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 7 of 9 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 6 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 11 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 10 reported patients
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 2 of 11 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 10 reported patients
Show the remaining 4
- Delayed CNS myelinationHPOHP:0002188
- 1 of 12 reported patients
- Lower limb spasticityHPOHP:0002061
- Severe global developmental delayHPOHP:0011344
- Upper limb spasticityHPOHP:0006986
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.
- ACTL6BHGNC:160
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 76
- Also called
- DEE76developmental and epileptic encephalopathy 76EIEE76EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76