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intellectual developmental disorder 61 (MRD61) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder 61

MONDO:0032485

Also known as:MRD61Mental Retardation, Autosomal Dominant 61

Overview

GeneticsAutosomal dominant · MED13 (chr 17)

OnsetCHILDHOOD, CONGENITAL, INFANTILE

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: Delayed speech and language development and Global developmental delay; and common findings: Delayed gross motor development, Autistic behavior, and Chronic constipation. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Global developmental delay, Delayed gross 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.

MED13 encodes mediator complex subunit 13 (2,174 aa). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Highest expression in Testis (24.5 TPM) and Cells EBV-transformed lymphocytes (22.6 TPM).

Intellectual developmental disorder 61 is associated with mutations in the MED13 gene on chromosome 17.

MED13 is classified as a druggable target (Nuclear Hormone Receptor and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for MED13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder 61 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 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 61.

201 publications have been identified in PubMed for intellectual developmental disorder 61. Research spans Epidemiology / Natural History (45%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Disease patterns and progression	78	45%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618009

GARD

Genetic and Rare Diseases Info Center

GARD:18514

Questions for Your Care Team

→Should I pursue genetic testing for MED13, 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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Kisho

intellectual developmental disorder 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications