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19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
ResearchLimited published research (1 article)
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 very common findings: Microcephaly, Delayed speech and language development, Global developmental delay, and Intrauterine growth retardation and others; and common findings: Narrow mouth, Long face, Epicanthus, and Short philtrum and others. 51 total HPO annotations.
Organ System
Phenotype Count
Example Features
Brain and nerves
9
Delayed speech and language development, Global developmental delay, Absent speech
Prognosis
Phenotype severity distribution: 5 very common features, 15 common features.
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 19p13.3 microduplication syndrome.
1 publication has been identified in PubMed for 19p13.3 microduplication syndrome. Research spans Case Report / Case Series (100%).
Recent Publications
Sun W (2025). [PMID: 39875952](https://pubmed.ncbi.nlm.nih.gov/39875952/). *BMC pediatrics*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:18 PM 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.
