Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
ORPHA:329249· ICD-10 E66.8
Definition
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood