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Ожиріння через дефіцит SIM1

ORPHA:369873· ICD-10 E66.8· Obesity due to SIM1 deficiency

Визначення(English summary)

A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal