For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| KIF7 | biallelic_autosomal | altered gene product structure | KIF7-related AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | DD | |
| KIF7 | biallelic_autosomal | absent gene product | KIF7-related ACROCALLOSAL SYNDROME | DD,Eye,Skeletal |