DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0014741Also known as: DESANTO-SHINAWI syndrome, DESSH, Desanto-Shinawi syndrome, facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, chromosome 10P12-p11 deletion syndrome, developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities, developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities
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Disease
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Hereditary disease
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Human disease
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Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
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Multiple congenital anomalies/dysmorphic syndrome
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Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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DeSanto-Shinawi syndrome
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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