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Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.
Features include always present findings: Axial hypotonia, Poor head control, Spastic diplegia, and Delayed speech and language development and others; and common findings: Short stature.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Spastic diplegia, Delayed speech and language development, Absent speech |
Muscles | 1 | Axial hypotonia |
Growth and development | 1 | Short stature |
ELP2 encodes elongator acetyltransferase complex subunit 2 (826 aa). Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). Highest expression in Ovary (42.8 TPM) and Fallopian Tube (33.9 TPM).
Intellectual disability, autosomal recessive 58 is associated with mutations in the ELP2 gene on chromosome 18.
ELP2 is classified as a druggable target (Clinically Actionable category) with score 0.0.
Genetic testing for ELP2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, autosomal recessive 58 has been reported in the published literature.
Phenotype severity distribution: 13 always present features, 1 common feature.
No clinical trials have been registered for intellectual disability, autosomal recessive 58.
7 publications have been identified in PubMed for intellectual disability, autosomal recessive 58. Research spans Epidemiology / Natural History (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).
Kovalskaia VA (2026). [PMID: 42271513](https://pubmed.ncbi.nlm.nih.gov/42271513/). *Hum Genomics*. [Basic Science / Preclinical]
İcil S (2026). [PMID: 42232678](https://pubmed.ncbi.nlm.nih.gov/42232678/). *Mol Syndromol*. [Epidemiology / Natural History]
Yigit ZM (2025). [PMID: 40782215](https://pubmed.ncbi.nlm.nih.gov/40782215/). *Neurogenetics*. [Case Report / Case Series]
Hashmi HB (2025). [PMID: 41452392](https://pubmed.ncbi.nlm.nih.gov/41452392/). *Neurogenetics*. [Diagnostic / Biomarker]
Colona VL (2025). [PMID: 41457191](https://pubmed.ncbi.nlm.nih.gov/41457191/). *Neurol Sci*. [Case Report / Case Series]
Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]
Alstrup M (2024). [PMID: 39033379](https://pubmed.ncbi.nlm.nih.gov/39033379/). *Genet Med*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC
Online Mendelian Inheritance in Man
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