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developmental and speech delay due to SOX5 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and speech delay due to SOX5 deficiency

MONDO:0017782

Overview

A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 and speech delay due to SOX5 deficiency.

3 publications have been identified in PubMed for developmental and speech delay due to SOX5 deficiency. Research spans Other (33%), Clinical Trial Publication (33%), and Epidemiology / Natural History (33%).

Recent Publications

Veronese A (2025). [PMID: 39821785](https://pubmed.ncbi.nlm.nih.gov/39821785/). *Neuropediatrics*. [Other]
Kava H (2025). [PMID: 40083435](https://pubmed.ncbi.nlm.nih.gov/40083435/). *Front Pediatr*. [Clinical Trial Publication]
Yang X (2025). [PMID: 39905544](https://pubmed.ncbi.nlm.nih.gov/39905544/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:313892

GARD

Genetic and Rare Diseases Info Center

GARD:17415

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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developmental and speech delay due to SOX5 deficiency

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team