Autism spectrum disorder due to AUTS2 deficiency

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Autism spectrum disorder due to AUTS2 deficiency

Synonyms: ASD due to AUTS2 deficiency | AUTS2 syndrome

A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability autism spectrum disorder with obsessive behavior stereotypies hyperactivity but frequently friendly and affable personality feeding difficulties short stature muscular hypotonia microcephaly characteristic dysmorphic features (hypertelorism high arched eyebrows ptosis deep and/or broad nasal bridge broad/prominent nasal tip short and/or upturned philtrum narrow mouth and micrognathia) and skeletal anomalies (kyphosis and/or scoliosis arthrogryposis slender habitus and extremities). Other clinical features may include hernias congenital heart defects cryptorchidism and seizures.

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 March 2024

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Autism spectrum disorder due to AUTS2 deficiency?

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Advocacy Organizations

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Helping Swans Co.

Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.

SCN2A Foundation

The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.

TRND Network

The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.

Clinical Trials

For a list of clinical trials in this disease area, please click here.