Coffin-Siris syndrome 5

MONDO:0014838

Any 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

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