Coffin-Siris syndrome 8
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0015452
Coffin-Siris syndrome
is_a
MONDO:0700120
BAFopathy
is_a
CSS8
related
SMARCC2-related BAFopathy
exact
SPAC23H3.10 SPAC17G6.10