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Radio-Tartaglia syndrome

Summary

Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HIAA0929, MINT, RATARS, RBM15C, SHARP, SPEN
    Summary: spen family transcriptional repressor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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