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Гіпоінсулінемічна гіпоглікемія та гемігіпертрофія тіла

ORPHA:293964· ICD-10 Q87.3· Hypoinsulinemic hypoglycemia and body hemihypertrophy

Визначення(English summary)

Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal