SMARCC1-associated developmental dysgenesis syndrome

MedGen UID:: 989892
•Concept ID:: CN306940
•: Disease or Syndrome

Synonym:	SMARCC1-related BAFopathy

Monarch Initiative:	MONDO:0700123

Definition

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. [from MONDO]

Supplemental Content

Clinical resources

ClinicalTrials.gov

Practice guidelines

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