📂 Diseases
Bardet-Biedl syndrome 13 — Definition
Bardet-Biedl sendromu 13 / Bardet-Biedl syndrome 13
Bardet-Biedl syndrome is a genetic disease with autozomal resessive transition, resulting from mutations in the 13 BBS13 gene. This syndrome is characterized by clinical findings such as retinal dystrophy, obesity, polymintili, kidney anomalies and learning strength. The disease occurs as a result of an eraser dysfunction and shows a multisystemic arrest. Diagnosis, clinical criteria and genetic tests, treatment is symptomatic and supportive.
Frequently Asked Questions
❓ What is Bardet-Biedl sendromu 13?
Bardet-Biedl sendromu 13; bardet-Biedl syndrome is a genetic disease with autozomal resessive transition, resulting from mutations in the 13 BBS13 gene. This syndrome is characterized by clinical findings such as retinal dystrophy, obesity, polymintili, kidney anomalies and learning strength. The disease occurs as a result of an eraser dysfunction and shows a multisystemic arrest. Diagnosis, clinical criteria and genetic tests, treatment is symptomatic and supportive.
❓ What is Bardet-Biedl syndrome 13 in Turkish?
The Turkish equivalent of "Bardet-Biedl syndrome 13" is Bardet-Biedl sendromu 13.
❓ Which medical field is Bardet-Biedl sendromu 13 related to?
This term belongs to the Diseases category.