For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
LAMP2 | monoallelic_X_het | altered gene product structure,decreased gene product level | LAMP2-related Danon disease | Cardiac | |
LAMP2 | monoallelic_X_hem | absent gene product | LAMP2-related DANON DISEASE | DD |