Genopathy
Gene-Disorder Association · Article
Gene
DOCK3
Dedicator Of Cytokinesis 3
Disorder
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
First reported 2017
Supporting publications 3
Key publication · gene–disorder Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Clinical genetics · 2017
Key publication · disorder Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.Pediatric neurology · 2001
Manually curated
Association Review

In brief

The association between DOCK3 (Dedicator Of Cytokinesis 3) and Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 17
Symptoms 35
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
DOCK3

The gene

1 source summary

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

Request access
04
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

20 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

17 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

3 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access