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distal monosomy 14q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 14q

MONDO:0019898

Also known as:distal deletion 14qdistal monosomy type 14qtelomeric deletion 14q

Overview

Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.

ResearchLimited published research (3 articles)

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 distal monosomy 14q.

3 publications have been identified in PubMed for distal monosomy 14q. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Nakae K (2026). [PMID: 41983542](https://pubmed.ncbi.nlm.nih.gov/41983542/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Xue H (2025). [PMID: 40595133](https://pubmed.ncbi.nlm.nih.gov/40595133/). *Sci Rep*. [Basic Science / Preclinical]
Kim YM (2025). [PMID: 40335045](https://pubmed.ncbi.nlm.nih.gov/40335045/). *Ann Pediatr Endocrinol Metab*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96150

GARD

Genetic and Rare Diseases Info Center

GARD:19329

Questions for Your Care Team

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distal monosomy 14q

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team