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GTR Home > Conditions/Phenotypes > Coffin-Siris syndrome 11

Coffin-Siris syndrome 11

Summary

Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by Nixon et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BAF60A, CRACD1, CSS11, Rsc6p, SMARCD1
    Summary: SWI/SNF related BAF chromatin remodeling complex subunit D1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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