Genopathy
Gene-Disorder Association · Article
Gene
CNNM2
Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2
Disorder
Seckel Syndrome
First reported 1963
Key publication · disorder Bird-headed dwarf: a case report.American journal of mental deficiency · 1963
Manually curated
Association Review

In brief

The association between CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2) and Seckel Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 29
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CNNM2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Seckel Syndrome

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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