For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
PTF1A | biallelic_autosomal | absent gene product | PTF1A-related DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS | DD | |
PTF1A | biallelic_autosomal | cis-regulatory or promotor mutation | PTF1A-related PANCREATIC AGENESIS | DD |