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intellectual developmental disorder, autosomal dominant 72 (MRD72) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal dominant 72

MONDO:0957397

Also known as:MRD72SRRM2-related neurodevelopmental disorderautosomal dominant intellectual developmental disorder-72

Overview

An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.

GeneticsAutosomal dominant · SRRM2 (chr 16)

OnsetNEONATAL

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: Global developmental delay; and very common findings: Mild intellectual disability and Delayed speech and language development. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Mild intellectual disability, Anxiety, Delayed speech and language development

Genetic Landscape

SRRM2 function has not been fully characterized.

Intellectual developmental disorder, autosomal dominant 72 is associated with mutations in the SRRM2 gene on chromosome 16.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SRRM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal dominant 72 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 7 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 72.

130 publications have been identified in PubMed for intellectual developmental disorder, autosomal dominant 72. Research spans Basic Science / Preclinical (44%), Review / Meta-Analysis (23%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Laboratory research	57	44%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620439

Orphanet

European rare disease database

Orphanet:652487

Questions for Your Care Team

→Should I pursue genetic testing for SRRM2, 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, autosomal dominant 72

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder, autosomal dominant 72

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications