For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
SLC25A19 | biallelic_autosomal | altered gene product structure | SLC25A19-related AMISH LETHAL MICROCEPHALY | DD |