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intellectual developmental disorder, autosomal dominant 65 (MRD65) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal dominant 65

MONDO:0023657

Also known as:MRD65mental retardation, autosomal dominant 65

Overview

GeneticsAutosomal dominant · KDM4B (chr 19)

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: Intellectual disability; and very common findings: Delayed speech and language development and Global developmental delay. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Seizure, Ataxia, Delayed fine motor development

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.

KDM4B encodes lysine demethylase 4B (1,096 aa). Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Highest expression in Thyroid (28.7 TPM) and Cells EBV-transformed lymphocytes (27.1 TPM).

Intellectual developmental disorder, autosomal dominant 65 is strongly associated with mutations in the KDM4B gene on chromosome 19.

The KDM4B protein participates in KDM4B gene:nucleoplasm:ESR1:ESTG, KDM4B-regulated genes:nucleosome:ESR1:ESTG, and KDM4B-regulated genes:H3K9me3 nucleosome pathways.

KDM4B is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for KDM4B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 11 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 dominant 65.

4 publications have been identified in PubMed for intellectual developmental disorder, autosomal dominant 65. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Zang H (2026). [PMID: 41853798](https://pubmed.ncbi.nlm.nih.gov/41853798/). *Exp Biol Med (Maywood)*. [Case Report / Case Series]
Leduc F (2025). [PMID: 40348827](https://pubmed.ncbi.nlm.nih.gov/40348827/). *Eur J Hum Genet*. [Case Report / Case Series]
Rezazadeh S (2025). [PMID: 40469903](https://pubmed.ncbi.nlm.nih.gov/40469903/). *Front Mol Neurosci*. [Review / Meta-Analysis]
Horsthemke B (2024). [PMID: 38854642](https://pubmed.ncbi.nlm.nih.gov/38854642/). *Med Genet*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619320

GARD

Genetic and Rare Diseases Info Center

GARD:18547

Questions for Your Care Team

→Should I pursue genetic testing for KDM4B, and what would the results mean for my family?
→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 dominant 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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