Obesity due to SIM1 deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Obesity due to SIM1 deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.