Ring chromosome 21 syndrome

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Ring chromosome 21 syndrome

Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features most commonly including growth retardation developmental delay intellectual disability epilepsy microcephaly short stature dysmorphic features hypogammaglobulinemia thrombocytopenia and unspecific skeletal anomalies (hemivertebrae clinodactyly syndactyly). In rare cases it has been described in phenotypically normal individuals.

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 September 2023.

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Ring chromosome 21 syndrome?

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