Ring chromosome 18 syndrome

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Synonyms: Ring 18 | Ring chromosome 18

A rare autosomal anomaly characterized by variable clinical features most commonly including hypotonia neonatal feeding and respiratory difficulties microcephaly global developmental delay and intellectual disability growth hormone deficiency hypothyroidism hearing loss aural atresia dysmorphic facial features and behavioral characteristics.

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 18 syndrome?

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