developmental and epileptic encephalopathy 109
MONDO:0859325Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 109 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
- Infantile onset · Childhood onset · Third trimester 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.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Focal hemiclonic seizureHPOHP:0006813
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
Show the remaining 16
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 4 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 3 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.
- FZR1HGNC:24824
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2022