DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0014741
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DeSanto–Shinawi syndrome
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 (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 described in the medical literature. However, many other individuals with this condition are being studied and characterized. With the increasing utilization of exome and whole genome sequencing, it is anticipated that many more individuals will be identified. The condition is characterized by a variable degree of developmental delay and intellectual disability, decreased muscle tone (hypotonia), behavioral abnormalities, some facial differences and gastrointestinal and eye abnormalities.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.