For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
PLOD1 | biallelic_autosomal | absent gene product | PLOD1-related EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM | DD,Eye | |
PLOD1 | biallelic_autosomal | absent gene product | PLOD1-related Kyphoscoliotic Ehlers Danlos Syndrome | Skin |