developmental and epileptic encephalopathy, 37
Findings
No curated finding names developmental and epileptic encephalopathy, 37 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.
Definition from the Mondo Disease Ontology (MONDO:0014859), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 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
- 8 of 8 reported patients
- ChoreaHPOHP:0002072
- 8 of 8 reported patients
- ChoreoathetosisHPOHP:0001266
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 8 of 8 reported patients
- Developmental regressionHPOHP:0002376
- 6 of 8 reported patients
- RigidityHPOHP:0002063
Show the remaining 9
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 8 reported patients
- Cogwheel rigidityHPOHP:0002396
- 1 of 8 reported patients
- MyoclonusHPOHP:0001336
- 1 of 8 reported patients
- NystagmusHPOHP:0000639
- 1 of 8 reported patients
- Cerebellar atrophyHPOHP:0001272
- Cerebral atrophyHPOHP:0002059
- Epileptic encephalopathyHPOHP:0200134
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.
- FRRS1LHGNC:1362
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 37
- Also called
- DEE37developmental and epileptic encephalopathy 37early infantile epileptic encephalopathy caused by mutation in FRRS1LEIEE37epileptic encephalopathy, early infantile, 37epileptic encephalopathy, early infantile, 37; EIEE37epileptic encephalopathy, early infantile, type 37FRRS1L early infantile epileptic encephalopathy