developmental and epileptic encephalopathy, 58
MONDO:0033367Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 58 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 2 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 4 reported patients
- NystagmusHPOHP:0000639
- 2 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 4 reported patients
- Delayed myelinationHPOHP:0012448
- 1 of 4 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 4 reported patients
- Inability to walkHPOHP:0002540
- 1 of 4 reported patients
Show the remaining 6
- Motor stereotypyHPOHP:0000733
- 1 of 4 reported patients
- Secondary microcephalyHPOHP:0005484
- 1 of 4 reported patients
- Spastic diplegiaHPOHP:0001264
- 1 of 4 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- Severe intellectual disabilityHPOHP:0010864
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.
- NTRK2HGNC:8032
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 58
- Also called
- DEE58developmental and epileptic encephalopathy 58EIEE58epileptic encephalopathy, early infantile, 58infantile epileptic encephalopathy 58