📂 Diseases
Schwartz-Jampel syndrome 1 — Definition
Schwartz-Jampel sendromu tip 1 / Schwartz-Jampel syndrome 1
Schwartz-Jampel syndrome type 1 is a genetic disease with rare seen autozomal resessive transition. It is characterized by iodine (not loosening of men) and iskelet dysplasia (chemic development disorder). In patients, typically short size, joint joints are observed, percentage marked muscle hardness and blefaroimosis ( narrowing of eyelids). mutations in HSPG2 leads to abnormalities in the muscle and skeleton system by disrupting the function of perlekan protein.
Frequently Asked Questions
❓ What is Schwartz-Jampel sendromu tip 1?
Schwartz-Jampel sendromu tip 1; schwartz-Jampel syndrome type 1 is a genetic disease with rare seen autozomal resessive transition. It is characterized by iodine (not loosening of men) and iskelet dysplasia (chemic development disorder). In patients, typically short size, joint joints are observed, percentage marked muscle hardness and blefaroimosis ( narrowing of eyelids). mutations in HSPG2 leads to abnormalities in the muscle and skeleton system by disrupting the function of perlekan protein.
❓ What is Schwartz-Jampel syndrome 1 in Turkish?
The Turkish equivalent of "Schwartz-Jampel syndrome 1" is Schwartz-Jampel sendromu tip 1.
❓ Which medical field is Schwartz-Jampel sendromu tip 1 related to?
This term belongs to the Diseases category.