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intellectual disability, autosomal recessive 29 (MRT29) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 29

MONDO:0013697

Also known as:MRT29mental retardation, autosomal recessive 29

Overview

GeneticsAutosomal recessive

ResearchLimited published research (9 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: Absent speech and Severe intellectual disability. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Absent speech, Severe intellectual disability
Muscles

Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal recessive 29 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 disability, autosomal recessive 29.

9 publications have been identified in PubMed for intellectual disability, autosomal recessive 29. Research spans Diagnostic / Biomarker (22%), Case Report / Case Series (22%), and Epidemiology / Natural History (22%).

Recent Publications

Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]
Manti F (2026). [PMID: 41450729](https://pubmed.ncbi.nlm.nih.gov/41450729/). *Neurol Genet*. [Epidemiology / Natural History]
Javed K (2026). [PMID: 41347281](https://pubmed.ncbi.nlm.nih.gov/41347281/). *Ann Hum Genet*. [Epidemiology / Natural History]
Trilla P (2026). [PMID: 41758270](https://pubmed.ncbi.nlm.nih.gov/41758270/). *Cell Mol Neurobiol*. [Case Report / Case Series]
Beşen Ş (2026). [PMID: 41622609](https://pubmed.ncbi.nlm.nih.gov/41622609/). *Ann Indian Acad Neurol*. [Gene Therapy / Novel Therapeutics]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614333

GARD

Genetic and Rare Diseases Info Center

GARD:22554

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 disability, autosomal recessive 29

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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