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developmental delay, language impairment, and ocular abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental delay, language impairment, and ocular abnormalities

MONDO:0859324

Overview

GeneticsAutosomal dominant · ARPC4 (chr 3)

ResearchLimited published research (2 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 speech and language development; and very common findings: Motor delay and Microcephaly. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Cerebral visual impairment, Aggressive behavior

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.

ARPC4 encodes actin related protein 2/3 complex subunit 4 (168 aa). Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). Highest expression in Whole Blood (231.0 TPM) and Cells EBV-transformed lymphocytes (207.5 TPM).

Developmental delay, language impairment, and ocular abnormalities is associated with mutations in the ARPC4 gene on chromosome 3.

ARPC4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ARPC4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

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 developmental delay, language impairment, and ocular abnormalities.

3 publications have been identified in PubMed for developmental delay, language impairment, and ocular abnormalities. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Fu F (2026). [PMID: 41634881](https://pubmed.ncbi.nlm.nih.gov/41634881/). *Human genomics*. [Epidemiology / Natural History]
Shokrollahi N (2024). [PMID: 38421525](https://pubmed.ncbi.nlm.nih.gov/38421525/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620141

Orphanet

European rare disease database

Orphanet:662762

Questions for Your Care Team

→Should I pursue genetic testing for ARPC4, and what would the results mean for my family?
→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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developmental delay, language impairment, and ocular abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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