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holoprosencephaly 13, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 13, X-linked

MONDO:0026763

Also known as:holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominantHPE13

Overview

GeneticsX-linked · STAG2 (chr X)

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 common findings: Microcephaly; and sometimes findings: Alobar holoprosencephaly, Cyclopia, Hearing loss (hearing impairment), and Median cleft upper lip and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Median cleft upper lip, Solitary median maxillary central incisor, Submucous cleft hard palate

Genetic Landscape

STAG2 function has not been fully characterized.

Holoprosencephaly 13, X-linked is associated with mutations in the STAG2 gene on chromosome X.

Diagnosis

Genetic testing for STAG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 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 holoprosencephaly 13, X-linked.

2 publications have been identified in PubMed for holoprosencephaly 13, X-linked. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Yang Q (2026). [PMID: 41560868](https://pubmed.ncbi.nlm.nih.gov/41560868/). *Exp Ther Med*. [Case Report / Case Series]
Tolmacheva EN (2025). [PMID: 39985054](https://pubmed.ncbi.nlm.nih.gov/39985054/). *Mol Cytogenet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301043

Questions for Your Care Team

→Should female family members consider carrier screening for STAG2?
→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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holoprosencephaly 13, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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