Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

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.

Disease data

Classification

Etiological subtype

ORPHA code

329249

OMIM code

ICD10 code

E66.8

ICD11 code

*Soruce