SMARCC1-associated developmental dysgenesis syndrome
MONDO:0700123Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.
Also known as: SMARCC1-related BAFopathy
0 clinical trials for this condition and its sub-types, 0 tagged with SMARCC1-associated developmental dysgenesis syndrome itself.
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