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neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

MONDO:0032661

Also known as:NEDIDHA

Overview

GeneticsAutosomal recessive · DOCK3 (chr 3)

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed ability to walk, Gait ataxia, Low muscle tone (hypotonia), and Global developmental delay; and common findings: Downslanted palpebral fissures, Absent speech, Long face, and Relative macrocephaly and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Hyporeflexia, Absent speech, Gait ataxia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DOCK3 encodes dedicator of cytokinesis 3 (2,030 aa). Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Highest expression in Brain Cerebellum (51.5 TPM) and Brain Cerebellar Hemisphere (50.6 TPM).

Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia is associated with mutations in the DOCK3 gene on chromosome 3.

The DOCK3 protein participates in DOCK3 activates RAC1, RAC1 GEFs activate RAC1, and RAC2 GEFs activate RAC2 pathways.

DOCK3 is classified as a druggable target with score 7.5.

Diagnosis

Genetic testing for DOCK3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 11 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.

10 publications have been identified in PubMed for neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Lambton J (2026). [PMID: 41895291](https://pubmed.ncbi.nlm.nih.gov/41895291/). *Am J Hum Genet*. [Gene Therapy / Novel Therapeutics]
Zhang J (2026). [PMID: 40855003](https://pubmed.ncbi.nlm.nih.gov/40855003/). *Mol Psychiatry*. [Basic Science / Preclinical]
Lee YJ (2025). [PMID: 40950074](https://pubmed.ncbi.nlm.nih.gov/40950074/). *bioRxiv*. [Basic Science / Preclinical]
Cabrita Pinto RL (2025). [PMID: 41153398](https://pubmed.ncbi.nlm.nih.gov/41153398/). *Genes (Basel)*. [Case Report / Case Series]
Mammadova D (2024). [PMID: 39416668](https://pubmed.ncbi.nlm.nih.gov/39416668/). *Front Neurol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618292

GARD

Genetic and Rare Diseases Info Center

GARD:18515

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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