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Autism spectrum disorder due to AUTS2 deficiency

MONDO:0014361

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.

Also known as: ASD due to AUTS2 deficiency, AUTS2 syndrome, MRD26, autism spectrum disorder due to AUTS2 deficiency, intellectual developmental disorder, autosomal dominant 26, intellectual disability type 26, mental retardation, autosomal dominant 26, mental retardation, autosomal dominant type 26

32 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 14 Not yet recruiting 5 Not yet finished but already full! 3 Completed 10
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