Coffin-Siris syndrome 5
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
MONDO:0015452
Coffin-Siris syndrome
is_a
MONDO:0700120
BAFopathy
is_a
CSS5
related
Coffin-Siris syndrome 5
exact
Coffin-Siris syndrome caused by mutation in SMARCE1
exact
Coffin-Siris syndrome type 5
exact
SMARCE1 Coffin-Siris syndrome
exact
SPBP23A10.05