Coffin-Siris syndrome 1
MONDO:0007617Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
Also known as: fifth digit syndrome, ARID1B-related BAFopathy, COFFIN-SIRIS syndrome 1, CSS1, Coffin-Siris syndrome 1, MRD12, hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
38 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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)