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Also known as:Del(15)(q14)monosomy 15q14chromosome 15q14 deletion syndrome
Overview
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
GeneticsAutosomal dominant
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: Cleft palate, Moderate intellectual disability, Low muscle tone (hypotonia), and Global developmental delay and others. 17 total HPO annotations.
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 15q14 microdeletion syndrome.
2 publications have been identified in PubMed for 15q14 microdeletion syndrome. Research spans Case Report / Case Series (100%).
Recent Publications
Nannan Y (2025). [PMID: 40883760](https://pubmed.ncbi.nlm.nih.gov/40883760/). *Molecular cytogenetics*. [Case Report / Case Series]
Yamada M (2024). [PMID: 37448313](https://pubmed.ncbi.nlm.nih.gov/37448313/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:35 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
