Coffin-Siris syndrome 1
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B 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
ARID1B-related BAFopathy
exact
COFFIN-SIRIS syndrome
related
COFFIN-SIRIS syndrome 1
exact
CSS
related
CSS1
exact
Coffin-Siris syndrome 1
exact
MRD12
exact
fifth digit syndrome
broad
hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features
exact
hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
exact
intellectual disability, autosomal dominant 12
exact
mental retardation, autosomal dominant 12
related
mental retardation, autosomal dominant type 12
exact
SPBC30B4.04c