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Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.
Features include always present findings: Intellectual disability.
Organ System
Phenotype Count |
|---|
Example Features |
|---|
Brain and nerves | 1 | Intellectual disability |
ZC3H14 function has not been fully characterized.
Intellectual disability, autosomal recessive 56 is associated with mutations in the ZC3H14 gene on chromosome 14.
Genetic testing for ZC3H14 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for intellectual disability, autosomal recessive 56.
7 publications have been identified in PubMed for intellectual disability, autosomal recessive 56. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).
Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clin Dysmorphol*. [Case Report / Case Series]
Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Basic Science / Preclinical]
Manti F (2026). [PMID: 41450729](https://pubmed.ncbi.nlm.nih.gov/41450729/). *Neurol Genet*. [Epidemiology / Natural History]
Baker M (2025). [PMID: 40700090](https://pubmed.ncbi.nlm.nih.gov/40700090/). *Vision (Basel)*. [Review / Meta-Analysis]
Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatr Neurol*. [Clinical Trial Publication]
Dolu MH (2024). [PMID: 39051604](https://pubmed.ncbi.nlm.nih.gov/39051604/). *J Child Neurol*. [Case Report / Case Series]
Ahmed AN (2024). [PMID: 39415096](https://pubmed.ncbi.nlm.nih.gov/39415096/). *BMC Neurol*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC
Online Mendelian Inheritance in Man
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