📂 Diseases
hyperphosphatasia with mental retardation syndrome 5 — Definition
Mental retardasyonlu hiperfosfatazi sendromu 5 / hyperphosphatasia with mental retardation syndrome 5
Alkalen phosphatease is a genetic disease that is rare, characterized by the persistent height of enzyme levels. moderate to severely mental insufficiency, seizures and developmental delay are observed in patients. It can also accompany findings such as skeleton abnormalities, microcephalus and facial dysmorphism. This syndrome showing autozomal resesif inheritance is caused by mutations in PGAP2 gene.
Frequently Asked Questions
❓ What is Mental retardasyonlu hiperfosfatazi sendromu 5?
Mental retardasyonlu hiperfosfatazi sendromu 5; alkalen phosphatease is a genetic disease that is rare, characterized by the persistent height of enzyme levels. moderate to severely mental insufficiency, seizures and developmental delay are observed in patients. It can also accompany findings such as skeleton abnormalities, microcephalus and facial dysmorphism. This syndrome showing autozomal resesif inheritance is caused by mutations in PGAP2 gene.
❓ What is hyperphosphatasia with mental retardation syndrome 5 in Turkish?
The Turkish equivalent of "hyperphosphatasia with mental retardation syndrome 5" is Mental retardasyonlu hiperfosfatazi sendromu 5.
❓ Which medical field is Mental retardasyonlu hiperfosfatazi sendromu 5 related to?
This term belongs to the Diseases category.