Genopathy
Gene-Disorder Association · Article
Gene
MCF2L2
MCF.2 Cell Line Derived Transforming Sequence-Like 2
Disorder
Microphthalmia, Syndromic 3
First reported 1971
Key publication · disorder The heterogeneity of microphthalmia in the mentally retarded.Birth defects original article series · 1971
Association Review

In brief

The association between MCF2L2 (MCF.2 Cell Line Derived Transforming Sequence-Like 2) and Microphthalmia, Syndromic 3 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 63
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
MCF2L2

The gene

1 source summary

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

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04
Microphthalmia, Syndromic 3

The disorder

14 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

48 clinical features

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

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06
Provenance

References & sources

6 references

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

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