developmental and epileptic encephalopathy 107
MONDO:0031055Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 107 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
14 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.
- Appendicular hypotoniaHPOHP:0012389
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 2 of 2 reported patients
- Progressive microcephalyHPOHP:0000253
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
Show the remaining 2
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient
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.
- NAPBHGNC:15751
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 107
- Also called
- DEE107