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hypomagnesemia, seizures, and intellectual disability 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomagnesemia, seizures, and intellectual disability 1

MONDO:0020787

Also known as:hypomagnesemia, seizures, and mental retardationHOMGSMR1HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1

Overview

GeneticsAutosomal recessive, Autosomal dominant · CNNM2 (chr 10)

ResearchLimited published research (1 article)

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, Global developmental delay, Hypomagnesemia, and Intellectual disability; and very common findings: Seizure. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Delayed speech and language development, 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.

CNNM2 encodes cyclin and CBS domain divalent metal cation transport mediator 2 (875 aa). Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) Highest expression in Artery Tibial (9.0 TPM) and Adrenal Gland (7.0 TPM).

Hypomagnesemia, seizures, and intellectual disability 1 is caused by mutations in the CNNM2 gene on chromosome 10.

CNNM2 is classified as a druggable target (Transporter category) with score 2.3.

Diagnosis

Genetic testing for CNNM2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 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 hypomagnesemia, seizures, and intellectual disability 1.

1 publication has been identified in PubMed for hypomagnesemia, seizures, and intellectual disability 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Li H (2025). [PMID: 40612795](https://pubmed.ncbi.nlm.nih.gov/40612795/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616418

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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hypomagnesemia, seizures, and intellectual disability 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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