📂 Diseases
hyperphosphatasia with mental retardation syndrome 4 — Definition
Mental retardasyonlu hiperfosfatazi sendromu tip 4 / hyperphosphatasia with mental retardation syndrome 4
This syndrome is a rare genetic disorder characterized by permanent high levels of serum alkalen phosphatease (hyperphosphateazi) and mental insufficiency (mental retardation). Type 4 refers to a specific subtype of the disease and usually indicates autozomal resesif inheritance. Clinical findings include developmental delay, seizures, skeleton abnormalities and dysmorphic facial properties. It is confirmed by diagnosis, clinical evaluation and genetic tests.
Frequently Asked Questions
❓ What is Mental retardasyonlu hiperfosfatazi sendromu tip 4?
Mental retardasyonlu hiperfosfatazi sendromu tip 4; this syndrome is a rare genetic disorder characterized by permanent high levels of serum alkalen phosphatease (hyperphosphateazi) and mental insufficiency (mental retardation). Type 4 refers to a specific subtype of the disease and usually indicates autozomal resesif inheritance. Clinical findings include developmental delay, seizures, skeleton abnormalities and dysmorphic facial properties. It is confirmed by diagnosis, clinical evaluation and genetic tests.
❓ What is hyperphosphatasia with mental retardation syndrome 4 in Turkish?
The Turkish equivalent of "hyperphosphatasia with mental retardation syndrome 4" is Mental retardasyonlu hiperfosfatazi sendromu tip 4.
❓ Which medical field is Mental retardasyonlu hiperfosfatazi sendromu tip 4 related to?
This term belongs to the Diseases category.