Ring chromosome 14 syndrome

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Ring chromosome 14 syndrome

Synonyms: Ring 14 | Ring chromosome 14

A rare chromosomal anomalie characterized by intellectual deficit retinal and skin pigmentation disorders seizures and dysmorphic features including flat occiput epicanthal folds downward slanting eyes flat nasal bridge upturned nostrils short neck and large low set ears.

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 October 2023.

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Ring chromosome 14 syndrome?

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Advocacy Organizations

Ring14 USA

In our effort to improve the quality of life for those affected by the rare neurodevelopmental disorders of the 14th chromosome, such as Ring14 Syndrome, Ring14 USA commits to promoting and funding critical research, raising awareness of these rare disorders, and providing thoughtful support to this community.

Ring14 USA

In our effort to improve the quality of life for those affected by the rare neurodevelopmental disorders of the 14th chromosome, such as Ring14 Syndrome, Ring14 USA commits to promoting and funding critical research, raising awareness of these rare disorders, and providing thoughtful support to this community.

Clinical Trials

For a list of clinical trials in this disease area, please click here.