Аутосомно-рецесивний гіпофосфатемічний рахіт
ORPHA:289176· ICD-10 E83.3· Autosomal recessive hypophosphatemic rickets
Визначення(English summary)
A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy