Genopathy
Gene-Disorder Association · Article
Gene
DHDDS
Dehydrodolichyl Diphosphate Synthase Subunit
Disorder
Developmental Delay And Seizures With Or Without Movement Abnormalities
First reported 2023
Supporting publications 18
Key publication · gene–disorder Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.Seizure · 2023
Key publication · disorder De novo mutations in epileptic encephalopathies.Nature · 2013
Manually curated
Association Review

In brief

The association between DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit) and Developmental Delay And Seizures With Or Without Movement Abnormalities is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 25
Symptoms 23
Compounds 0
Trials 0
Publications 18
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

3 sources

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

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03
DHDDS

The gene

1 source summary

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

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04
Developmental Delay And Seizures With Or Without Movement Abnormalities

The disorder

6 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

16 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

25 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

18 publications

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

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09
Provenance

References & sources

13 references

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

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