Ring chromosome 19 syndrome

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Synonyms: Ring 19 | Ring chromosome 19

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability developmental delay learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly prominent forehead low-set and posteriorly rotated ears hypertelorism high nasal bridge prominent philtrum retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing head banging) may also be associated. Other anomalies such as cutis laxa hearing loss syndactyly digital hypoplasia and talipes equinovarus have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Ring chromosome 19 syndrome?

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