Search results for INPP5E

Gene symbol Genotype Mutation consequence Disease Panels Go to page
INPP5E biallelic_autosomal absent gene product MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS DD
INPP5E biallelic_autosomal uncertain JOUBERT SYNDROME TYPE 1 DD
INPP5E biallelic_autosomal absent gene product MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS Eye
INPP5E biallelic_autosomal uncertain JOUBERT SYNDROME 1 Eye