Ring chromosome 1 syndrome

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Ring chromosome 1 syndrome

Synonyms: Ring 1 | Ring chromosome 1 | r(1) syndrome

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features most commonly including significant intrauterine and postnatal growth failure developmental delay intellectual disability microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum atrial septal defect rocker bottom feet and clinodactyly.

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 April 2024

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Ring chromosome 1 syndrome?

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