intellectual disability, autosomal dominant 16
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 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 4
exact
CSS4
exact
Coffin-Siris syndrome caused by mutation in SMARCA4
exact
MRD16
exact
SMARCA4 Coffin-Siris syndrome
exact
SMARCA4-related BAFopathy
exact
autosomal dominant intellectual disability 16
exact
intellectual disability, autosomal dominant 16
exact
intellectual disability, autosomal dominant type 16
exact
mental retardation, autosomal dominant 16
related
mental retardation, autosomal dominant type 16
exact
SPAC1250.01 SPCC1620.14c