Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.
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Coffin-Siris syndrome 1
MONDO:0007617
Baraitser-Winter syndrome 1
MONDO:0009470
intellectual disability-sparse hair-brachydactyly syndrome
MONDO:0011053
intellectual disability, autosomal dominant 14
MONDO:0013819
intellectual disability, autosomal dominant 15
MONDO:0013820
intellectual disability, autosomal dominant 16
MONDO:0013821