Coffin-Siris syndrome 1

MONDO:0007617

Any 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.

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