SMARCA4

Management

Diagnosis/testing

Mutations in SMARCA4 can be identified using molecular genetic testing, either directly by sequencing and/or MLPA of the SMARCA4 gene or by exome/genome sequencing.

Management

Treatment of manifestations:

  • speech therapy and other interventions to augment communication
  • educational programs directed to specific disabilities identified
  • screening for congenital anomalies.