Coffin-Siris syndrome 8
MONDO:0032702Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.
Also known as: SMARCC2-related BAFopathy, COFFIN-SIRIS SYNDROME 8, CSS8
38 clinical trials for this condition and its sub-types.
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Disease
(618)
Musculoskeletal system disorder
(196)
Hereditary disease
(172)
Syndromic disease
(24)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Skeletal system disorder
(4)
Disease of genetic or genomic mechanism
(2)
Coffin-Siris syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome
(1)