📂 Diseases
pontocerebellar hypoplasia type 5 — Definition
Pontoserebellar hipoplazi tip 5 / pontocerebellar hypoplasia type 5
Pontoserebellar hypoplasia type 5 is a part of the brain stem (pons) and a congenital disorder in the brain (serebellum). This condition is characterized by severe motor and mental backrest, seizures and respiratory problems. The disease is caused by mutations in TSEN54 gene and indicates autosomal resessive inheritance. Type 5 may show a milder clinical looking compared to other types, but still leads to serious neurological problems that last lifetime.
Frequently Asked Questions
❓ What is Pontoserebellar hipoplazi tip 5?
Pontoserebellar hipoplazi tip 5; pontoserebellar hypoplasia type 5 is a part of the brain stem (pons) and a congenital disorder in the brain (serebellum). This condition is characterized by severe motor and mental backrest, seizures and respiratory problems. The disease is caused by mutations in TSEN54 gene and indicates autosomal resessive inheritance. Type 5 may show a milder clinical looking compared to other types, but still leads to serious neurological problems that last lifetime.
❓ What is pontocerebellar hypoplasia type 5 in Turkish?
The Turkish equivalent of "pontocerebellar hypoplasia type 5" is Pontoserebellar hipoplazi tip 5.
❓ Which medical field is Pontoserebellar hipoplazi tip 5 related to?
This term belongs to the Diseases category.