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intellectual disability, autosomal recessive 65 (MRT65) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 65

MONDO:0020850

Also known as:MRT65mental retardation, autosomal recessive 65

Overview

GeneticsAutosomal recessive · KDM5B (chr 1)

OnsetNEONATAL

ResearchLimited published research (8 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: Moderate intellectual disability; and common findings: Astigmatism, Strabismus, Square face, and Inguinal hernia and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Moderate intellectual disability, Gait ataxia, Moderate global developmental delay

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.

KDM5B encodes lysine demethylase 5B (1,544 aa). Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Highest expression in Testis (105.7 TPM) and Skin Sun Exposed Lower leg (28.5 TPM).

Intellectual disability, autosomal recessive 65 is associated with mutations in the KDM5B gene on chromosome 1.

The KDM5B protein participates in KDM5B demethylates histone H3 trimethyllysine-4 (H3K4me3), CDKN1A gene expression is stimulated by TFAP2A and repressed by TFAP2C, and KDM5A demethylates histone H3 trimethyllysine-4 (H3K4me3) pathways.

KDM5B is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for KDM5B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 65 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 24 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 disability, autosomal recessive 65.

8 publications have been identified in PubMed for intellectual disability, autosomal recessive 65. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]
Selvanayagam T (2025). [PMID: 40169255](https://pubmed.ncbi.nlm.nih.gov/40169255/). *J Med Genet*. [Diagnostic / Biomarker]
Yamaguchi Y (2025). [PMID: 39617394](https://pubmed.ncbi.nlm.nih.gov/39617394/). *Congenit Anom (Kyoto)*. [Basic Science / Preclinical]
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Hum Genomics*. [Review / Meta-Analysis]
Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatr Neurol*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618109

GARD

Genetic and Rare Diseases Info Center

GARD:22578

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 65

Overview

Clinical Presentation

Genetic Landscape

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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