Autozomálně dominantní
Caused by changes in one copy of SMARCC1, part of the BAF chromatin-remodelling complex that controls gene activity during brain development. The changes identified in the study were de novo.
Příznaky a projevy
Congenital hydrocephalus, often from narrowing of the brain's aqueduct, is a key feature, along with other brain malformations such as corpus callosum abnormalities. Developmental delay and cardiac defects are also common.
Co se diagnózou změní
Neurosurgical management of hydrocephalus, developmental support and assessment for other anomalies. Because the reported changes arose de novo, genetic counselling and parental testing are still important for recurrence risk.
Analyzované geny
Známé také jako
SMARCC1-related BAFopathy
