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Features include always present findings: Intellectual disability; and very common findings: Malar flattening. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Delayed speech and language development, Seizure, Global developmental delay |
Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Xq25 microduplication syndrome.
1 publication has been identified in PubMed for Xq25 microduplication syndrome. Research spans Epidemiology / Natural History (100%).
Tolmacheva EN (2025). [PMID: 39985054](https://pubmed.ncbi.nlm.nih.gov/39985054/). *Molecular cytogenetics*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:43 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Xq25 microduplication syndrome
2 |
Facial hypotonia, Generalized hypotonia |
Head and neck | 2 | Facial hypotonia, Mandibular prognathia |
Growth and development | 2 | Tall stature, Short stature |