developmental and epileptic encephalopathy 112
MONDO:0957812Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 112 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
27 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 13 of 13 reported patients
- Clonic seizureHPOHP:0020221
- 3 of 3 reported patients
- Focal motor seizureHPOHP:0011153
- 5 of 5 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 2 reported patients
- MacroglossiaHPOHP:0000158
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 11 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 7 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 14 of 17 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 13 reported patients
- Motor delayHPOHP:0001270
- 2 of 4 reported patients
Show the remaining 15
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 6 of 21 reported patients
- Focal impaired awareness motor seizureHPOHP:0032712
- 4 of 16 reported patients
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- 1 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 20 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 5 reported patients
- Myoclonic seizureHPOHP:0032794
- 4 of 22 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.
- KCNH5HGNC:6254
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025