Ring chromosome 17 syndrome

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Synonyms: Ring 17 | Ring chromosome 17

A rare chromosomal anomaly characterized by highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature microcephaly intellectual disability seizures (that may be pharmacoresistant) café-au-lait spots retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region.

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 17 syndrome?

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Clinical Trials

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