Hypoparathyroidism-retardation-dysmorphism syndrome (HRD, also known as Sanjad-Sakati syndrome) is a recessive, fatal disease associated with hypoparathyroidism, growth retardation, intellectual disabilities, facial dysmorphies, and seizures. HRD is associated with mutations in tubulin folding cofactor E (TBCE, also known as tubulin-specific chaperone E). TBCE mutations are also associated with a similar disease known as Kenny-Caffey syndrome. Fly stocks in the Bloomington collection that can be used to study HRD are listed here.
General information links for HRD:
- NLM/NIH's Genetic and Rare Disease Information Center
- NIH's Genetics Home Reference lonk for TBCE - includes links for GHR pages on FMR1