developmental and epileptic encephalopathy, 73
MONDO:0034106Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 73 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
- Congenital onset
HPO, annotations 2026-09-02
Features
50 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.
- Cerebral visual impairmentHPOHP:0100704
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Profound intellectual disabilityHPOHP:0002187
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- RestlessnessHPOHP:0000711
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 3 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 38
- IrritabilityHPOHP:0000737
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- EEG with focal epileptiform dischargesHPOHP:0011185
- Frequent (30% to 79% of cases)
- EEG with generalized slow activityHPOHP:0010845
- Frequent (30% to 79% of cases)
- Epileptic encephalopathyHPOHP:0200134
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
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.
- RNF13HGNC:10057
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 73
- Also called
- DEE73developmental and epileptic encephalopathy 73epileptic encephalopathy, early infantile, 73rnf13-related severe early-onset epileptic encephalopathy