has material basis in germline mutation in disease has feature AUTS2 Autism congenital nervous system disorder autism spectrum disorder due to AUTS2 deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_26 ASD due to AUTS2 deficiency mental retardation, autosomal dominant type 26 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. Orphanet:352490 MONDO:0014361 MRD26 intellectual disability type 26 GARD:0017520 OMIM:615834 MEDGEN:862872 AUTS2 syndrome intellectual developmental disorder, autosomal dominant 26 DOID:0070056 UMLS:C4014435 autism spectrum disorder due to AUTS2 deficiency mental retardation, autosomal dominant 26 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant non-syndromic intellectual disability autosomal dominant syndromic intellectual disability