Genopathy
Gene-Disorder Association · Article
Gene
MFSD2A
MFSD2 Lysolipid Transporter A, Lysophospholipid
Disorder
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
First reported 2020
Supporting publications 4
Key publication · gene–disorder Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.European journal of human genetics : EJHG · 2020
Key publication · disorder Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings.Clinical genetics · 1977
Manually curated
Association Review

In brief

The association between MFSD2A (MFSD2 Lysolipid Transporter A, Lysophospholipid) and Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 15
Symptoms 39
Compounds 0
Trials 0
Publications 4
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

4 sources

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

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03
MFSD2A

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

The disorder

7 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

20 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

15 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

10 references

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

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