Features include always present findings: Hypertonia, Flexion contracture, Seizure, and Profound intellectual disability and others; and common findings: Narrow forehead, Delayed CNS myelination, Inguinal hernia, and Short nose and others. 24 total HPO annotations.

RNF13 function has not been fully characterized.

Developmental and epileptic encephalopathy, 73 is associated with mutations in the RNF13 gene on chromosome 3.

Genetic testing for RNF13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 73 has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for developmental and epileptic encephalopathy, 73.

8 publications have been identified in PubMed for developmental and epileptic encephalopathy, 73. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Enyama D (2026). [PMID: 41837584](https://pubmed.ncbi.nlm.nih.gov/41837584/). *J Paediatr Child Health*. [Review / Meta-Analysis]

• Zhang Q (2026). [PMID: 41578212](https://pubmed.ncbi.nlm.nih.gov/41578212/). *BMC neurology*. [Review / Meta-Analysis]

• Meena AK (2025). [PMID: 40705299](https://pubmed.ncbi.nlm.nih.gov/40705299/). *Neurology India*. [Case Report / Case Series]

• Thaher D (2025). [PMID: 40156306](https://pubmed.ncbi.nlm.nih.gov/40156306/). *Journal of child neurology*. [Epidemiology / Natural History]

• Olculu CB (2025). [PMID: 39798199](https://pubmed.ncbi.nlm.nih.gov/39798199/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Epidemiology / Natural History]