📂 Diseases
Hyperphosphatasia with mental retardation syndrome type 1 — Definition
Mental Retardasyonlu Hiperfosfatazi Sendromu Tip 1 / Hyperphosphatasia with mental retardation syndrome type 1
This syndrome is a rare genetic disorder characterized by persistent height (hyperphosphateazi) in serum alkalen phosphatease levels. Otozomal shows resesif inheritance and is caused by mutations in PIGV gene. Clinical findings include development backrest, seizures, hypotonia and characteristic facial appearance. The diagnosis is subject to clinical evaluation and genetic tests.
Frequently Asked Questions
❓ What is Mental Retardasyonlu Hiperfosfatazi Sendromu Tip 1?
Mental Retardasyonlu Hiperfosfatazi Sendromu Tip 1; this syndrome is a rare genetic disorder characterized by persistent height (hyperphosphateazi) in serum alkalen phosphatease levels. Otozomal shows resesif inheritance and is caused by mutations in PIGV gene. Clinical findings include development backrest, seizures, hypotonia and characteristic facial appearance. The diagnosis is subject to clinical evaluation and genetic tests.
❓ What is Hyperphosphatasia with mental retardation syndrome type 1 in Turkish?
The Turkish equivalent of "Hyperphosphatasia with mental retardation syndrome type 1" is Mental Retardasyonlu Hiperfosfatazi Sendromu Tip 1.
❓ Which medical field is Mental Retardasyonlu Hiperfosfatazi Sendromu Tip 1 related to?
This term belongs to the Diseases category.