Ожиріння, зумовлене дефіцитом CEP19
ORPHA:397615· ICD-10 E66.8· Obesity due to CEP19 deficiency
Визначення(English summary)
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood