developmental and epileptic encephalopathy 106
MONDO:0031052Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 106 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
15 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 7 of 8 reported patients
- Absent speechHPOHP:0001344
- 4 of 8 reported patients
- Infantile spasmsHPOHP:0012469
- 4 of 8 reported patients
- EsodeviationHPOHP:0020045
- 3 of 8 reported patients
- Postnatal growth retardationHPOHP:0008897
- 3 of 8 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 8 reported patients
- EsotropiaHPOHP:0000565
- 2 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 8 reported patients
- ExotropiaHPOHP:0000577
- 1 of 8 reported patients
Show the remaining 3
- Focal clonic seizureHPOHP:0002266
- 1 of 8 reported patients
- Limb hypertoniaHPOHP:0002509
- 1 of 8 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 8 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.
- UFSP2HGNC:25640
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · G2P · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 106
- Also called
- DEE106