Search results for CREBBP

Gene symbol Genotype Mutation consequence Disease Panels Go to page
CREBBP monoallelic_autosomal absent gene product RUBINSTEIN-TAYBI SYNDROME TYPE 1 DD,Skin
CREBBP monoallelic_autosomal absent gene product RUBINSTEIN-TAYBI SYNDROME 1 Eye
CREBBP mitochondrial uncertain CREBBP intellectual disability without typical RTS features Skin