📂 Diseases
microcephalic primordial dwarfism due to RTTN deficiency — Definition
RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik / microcephalic primordial dwarfism due to RTTN deficiency
RTTN gene is a rare genetic disease characterized by mutations in the gene, prenatal and post-natal growth retardation. The main findings include pronounced microcephalus (the small of the head environment), neck shortness and mild to moderate mental development backness. The disease is caused by the function loss of RTTN protein, which plays a role in cell division and DNA repair, and shows autozomal resessive inheritance.
Frequently Asked Questions
❓ What is RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik?
RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik; rTTN gene is a rare genetic disease characterized by mutations in the gene, prenatal and post-natal growth retardation. The main findings include pronounced microcephalus (the small of the head environment), neck shortness and mild to moderate mental development backness. The disease is caused by the function loss of RTTN protein, which plays a role in cell division and DNA repair, and shows autozomal resessive inheritance.
❓ What is microcephalic primordial dwarfism due to RTTN deficiency in Turkish?
The Turkish equivalent of "microcephalic primordial dwarfism due to RTTN deficiency" is RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik.
❓ Which medical field is RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik related to?
This term belongs to the Diseases category.