EDC3 encodes enhancer of mRNA decapping 3 (508 aa). Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis Highest expression in Testis (44.8 TPM) and Cells EBV-transformed lymphocytes (28.5 TPM).

Intellectual disability, autosomal recessive 50 is associated with mutations in the EDC3 gene on chromosome 15.

EDC3 is classified as a druggable target with score 0.0.

Genetic testing for EDC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 50 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 50.

58 publications have been identified in PubMed for intellectual disability, autosomal recessive 50. Kisho has analyzed 14 by research type. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (36%), and Diagnostic / Biomarker (14%).

Recent Publications

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Diagnostic / Biomarker]

• Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]

• Esmaeil Lashgarian H (2026). [PMID: 41625348](https://pubmed.ncbi.nlm.nih.gov/41625348/). *Iranian journal of medical sciences*. [Review / Meta-Analysis]

• Filipic M (2026). [PMID: 41623317](https://pubmed.ncbi.nlm.nih.gov/41623317/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

• Marczyk T (2025). [PMID: 40565581](https://pubmed.ncbi.nlm.nih.gov/40565581/). *Genes*. [Case Report / Case Series]

• Shah A (2025). [PMID: 39939801](https://pubmed.ncbi.nlm.nih.gov/39939801/). *Journal of human genetics*. [Case Report / Case Series]

• Kessler L (2025). [PMID: 39663844](https://pubmed.ncbi.nlm.nih.gov/39663844/). *Clinical genetics*. [Review / Meta-Analysis]

• AlFaris B (2025). [PMID: 39667299](https://pubmed.ncbi.nlm.nih.gov/39667299/). *Brain & development*. [Diagnostic / Biomarker]

• Akar HT (2025). [PMID: 39953904](https://pubmed.ncbi.nlm.nih.gov/39953904/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Review / Meta-Analysis]

• Li Y (2025). [PMID: 39912399](https://pubmed.ncbi.nlm.nih.gov/39912399/). *Journal of biosciences*. [Review / Meta-Analysis]