SMARCC1-associated developmental dysgenesis syndrome

MONDO:0700123

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.

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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↑ BAFopathy (0)

Including sub-types (0) Tagged with SMARCC1-associated developmental dysgenesis syndrome (0)

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