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intellectual developmental disorder, autosomal recessive 72 (MRT72) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 72

MONDO:0032860

Also known as:MRT72Mental Retardation, Autosomal Recessive 72

Overview

GeneticsAutosomal recessive · METTL5 (chr 2)

OnsetCONGENITAL

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Microcephaly, Delayed speech and language development, and Severe intellectual disability; and common findings: Decreased body weight, Aggressive behavior, Macrotia, and Attention deficit hyperactivity disorder and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Seizure, Severe intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

METTL5 encodes methyltransferase 5, N6-adenosine (209 aa). Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA. Highest expression in Cells EBV-transformed lymphocytes (65.2 TPM) and Artery Aorta (63.2 TPM).

Intellectual developmental disorder, autosomal recessive 72 is associated with mutations in the METTL5 gene on chromosome 2.

METTL5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for METTL5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 72.

5 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 72. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Epidemiology / Natural History]
Hashem S (2025). [PMID: 41465175](https://pubmed.ncbi.nlm.nih.gov/41465175/). *Genes (Basel)*. [Review / Meta-Analysis]
Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metab Brain Dis*. [Epidemiology / Natural History]
Orji OC (2025). [PMID: 39499421](https://pubmed.ncbi.nlm.nih.gov/39499421/). *Mol Neurobiol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618665

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual developmental disorder, autosomal recessive 72

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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