Coffin-Siris syndrome

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Synonyms: CSS

A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly but not consistently include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and coarse facial features.

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 May 2024

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Coffin-Siris syndrome?

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