Genopathy
Gene-Disorder Association · Article
Gene
MCPH1
Microcephalin 1
Disorder
Isolated Congenital Microcephaly
First reported 1958
Supporting publications 14
Key publication · disorder [Concerning the simple recessive character of true, spurious & combined microcephaly & concerning the localized occurrence of true microcephaly in Swiss isolates].Acta geneticae medicae et gemellologiae · 1958
Association Review

In brief

The association between MCPH1 (Microcephalin 1) and Isolated Congenital Microcephaly is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 14
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
MCPH1

The gene

1 source summary

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

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04
Isolated Congenital Microcephaly

The disorder

4 database identifiers

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

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05
Literature

Reading

14 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

11 references

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

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