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intellectual developmental disorder 60 with seizures (MRD60) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder 60 with seizures

MONDO:0032823

Also known as:MRD60Mental Retardation, Autosomal Dominant 60, With Seizures

Overview

GeneticsAutosomal dominant · AP2M1 (chr 3)

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: Generalized hypotonia and Intellectual disability; and common findings: Truncal ataxia, Atonic seizure, Gait ataxia, and Absence seizure with eyelid myoclonia and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Bilateral tonic-clonic seizure, Truncal ataxia, Focal impaired awareness seizure

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.

AP2M1 encodes adaptor related protein complex 2 subunit mu 1 (435 aa). Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Highest expression in Cells Cultured fibroblasts (488.6 TPM) and Brain Frontal Cortex BA9 (384.7 TPM).

Intellectual developmental disorder 60 with seizures is associated with mutations in the AP2M1 gene on chromosome 3.

AP2M1 is classified as a druggable target (Kinase category) with score 8.7.

Diagnosis

Genetic testing for AP2M1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 60 with seizures.

4 publications have been identified in PubMed for intellectual developmental disorder 60 with seizures. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Review / Meta-Analysis]
Chu M (2025). [PMID: 41451492](https://pubmed.ncbi.nlm.nih.gov/41451492/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Karge RA (2025). [PMID: 41017589](https://pubmed.ncbi.nlm.nih.gov/41017589/). *Dis Model Mech*. [Basic Science / Preclinical]
Sun YY (2024). [PMID: 39725401](https://pubmed.ncbi.nlm.nih.gov/39725401/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618587

GARD

Genetic and Rare Diseases Info Center

GARD:16367

Questions for Your Care Team

→Should I pursue genetic testing for AP2M1, 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 60 with seizures

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

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