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ptosis, hereditary congenital 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ptosis, hereditary congenital 2

MONDO:0010280

Also known as:ptosis, hereditary congenital 2, X-linked dominantptosis, hereditary congenital type 2Ptos2

Overview

GeneticsX-linked

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Ptosis and Compensatory chin elevation.

Organ System	Phenotype Count	Example Features
Eyes	1	Ptosis

Explore clinical 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 ptosis, hereditary congenital 2.

5 publications have been identified in PubMed for ptosis, hereditary congenital 2. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Recent Publications

Mancini M (2025). [PMID: 40551856](https://pubmed.ncbi.nlm.nih.gov/40551856/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Goret M (2025). [PMID: 40042903](https://pubmed.ncbi.nlm.nih.gov/40042903/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Oommen AT (2025). [PMID: 40512964](https://pubmed.ncbi.nlm.nih.gov/40512964/). *J Clin Neuromuscul Dis*. [Case Report / Case Series]
Karimi N (2024). [PMID: 39359531](https://pubmed.ncbi.nlm.nih.gov/39359531/). *J Ophthalmic Vis Res*. [Epidemiology / Natural History]
Johari M (2024). [PMID: 39209426](https://pubmed.ncbi.nlm.nih.gov/39209426/). *J Med Genet*. [Gene Therapy / Novel Therapeutics]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300245

GARD

Genetic and Rare Diseases Info Center

GARD:18163

Questions for Your Care Team

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ptosis, hereditary congenital 2

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team