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 April 2024
Newly diagnosed with
Autism spectrum disorder due to AUTS2 deficiency?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Clinical Trials
For a list of clinical trials in this disease area, please click here.