/autism spectrum disorder due to AUTS2 deficiency

autism spectrum disorder due to AUTS2 deficiency

Rare Disease

MONDO:0014361

Also Known As

ASD due to AUTS2 deficiencyAUTS2 syndromeMRD26autism spectrum disorder due to AUTS2 deficiencyautosomal dominant mental retardation 26autosomal dominant non-syndromic intellectual disability 26intellectual developmental disorder, autosomal dominant 26intellectual disability type 26mental retardation, autosomal dominant 26mental retardation, autosomal dominant type 26

Definition

Autism spectrum disorder due to AUTS2 deficiency is 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.