📂 Diseases
multiple congenital anomalies-hypotonia-seizures syndrome 2 — Definition
Multipl konjenital anomaliler-hipotoni-nöbet sendromu 2 / multiple congenital anomalies-hypotonia-seizures syndrome 2
Multipl congenital anomalies-hyotoni-nöbet syndrome 2 is a rare genetic disease characterized by congenital multiple structural anomalies, low muscle tone (hyotoni) and recurrent seizures. This syndrome is often caused by mutations in PIGA gene and leads to abnormal function of cell surface proteins by affecting the biosynthesis of glucoseylphosphateidilinositol (GPI). Clinical findings include mental insufficiency, developmental delay, facial dysmorphism and various organ anomalies (such as heart, kidney).
Frequently Asked Questions
❓ What is Multipl konjenital anomaliler-hipotoni-nöbet sendromu 2?
Multipl konjenital anomaliler-hipotoni-nöbet sendromu 2; multipl congenital anomalies-hyotoni-nöbet syndrome 2 is a rare genetic disease characterized by congenital multiple structural anomalies, low muscle tone (hyotoni) and recurrent seizures. This syndrome is often caused by mutations in PIGA gene and leads to abnormal function of cell surface proteins by affecting the biosynthesis of glucoseylphosphateidilinositol (GPI). Clinical findings include mental insufficiency, developmental delay, facial dysmorphism and various organ anomalies (such as heart, kidney).
❓ What is multiple congenital anomalies-hypotonia-seizures syndrome 2 in Turkish?
The Turkish equivalent of "multiple congenital anomalies-hypotonia-seizures syndrome 2" is Multipl konjenital anomaliler-hipotoni-nöbet sendromu 2.
❓ Which medical field is Multipl konjenital anomaliler-hipotoni-nöbet sendromu 2 related to?
This term belongs to the Diseases category.