Genopathy
Gene-Disorder Association · Article
Gene
SMPD4
Sphingomyelin Phosphodiesterase 4
Disorder
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
First reported 2013
Supporting publications 2
Key publication · disorder Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.Gene · 2013
Manually curated
Association Review

In brief

The association between SMPD4 (Sphingomyelin Phosphodiesterase 4) and Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 41
Symptoms 81
Compounds 0
Trials 0
Publications 2
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
SMPD4

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies

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

43 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

41 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

2 publications

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

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09
Provenance

References & sources

8 references

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

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