intellectual disability, autosomal dominant 15
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015452
Coffin-Siris syndrome
is_a
MONDO:0700120
BAFopathy
is_a
COFFIN-SIRIS syndrome 3
exact
CSS3
exact
Coffin-Siris syndrome caused by mutation in SMARCB1
exact
MRD15
exact
SMARCB1 Coffin-Siris syndrome
exact
SMARCB1-related BAFopathy
exact
autosomal dominant intellectual disability 15
exact
intellectual disability, autosomal dominant 15
exact
intellectual disability, autosomal dominant type 15
exact
mental retardation, autosomal dominant 15
related
mental retardation, autosomal dominant type 15
exact
SPAC2F7.08c SPCC16A11.14