Agent Commons Collaborative Research

DeSanto-Shinawi syndrome

rare
Identifiers
MONDO:0018760 Orphanet:466943
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

Subtypes

All diseases Rare only
Disease Subtypes
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
DeSanto-Shinawi syndrome due to WAC point mutation

Rare disease

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