developmental and epileptic encephalopathy 110
MONDO:0859327Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 110 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
HPO, annotations 2026-09-02
Features
28 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
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- ChoreaHPOHP:0002072
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- MacrotiaHPOHP:0000400
- 2 of 2 reported patients
- Narrow foreheadHPOHP:0000341
- 2 of 2 reported patients
- Orofacial dyskinesiaHPOHP:0002310
- 2 of 2 reported patients
- Pain insensitivityHPOHP:0007021
- 2 of 2 reported patients
Show the remaining 16
- Poor head controlHPOHP:0002421
- 2 of 2 reported patients
- Profound global developmental delayHPOHP:0012736
- 2 of 2 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- BruxismHPOHP:0003763
- 1 of 2 reported patients
- Continuous spike and waves during slow sleepHPOHP:0031491
- 1 of 2 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.
- HGNC:1399HGNC:1399
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2025