Coffin-Siris syndrome 5
MONDO:0014838Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
Also known as: Coffin-Siris syndrome 5, Coffin-Siris syndrome caused by mutation in SMARCE1, Coffin-Siris syndrome type 5, SMARCE1 Coffin-Siris syndrome, COFFIN-SIRIS syndrome 5, CSS5
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)