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DeSanto-Shinawi syndrome
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Medical condition
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DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (the WAC gene). The condition was first described in 2015 in six individuals. The prevalence of DESSH syndrome is unknown at this time, but 25 individuals have been so far...

Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
syndromic intellectual disability
Wikidata