For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
LSM11 | biallelic_autosomal | altered gene product structure | LSM11-related Aicardi-Goutieres syndrome | DD |