Autism spectrum disorder due to AUTS2 deficiency

Også kjent som: Autism spectrum disorder due to AUTS2 deficiency
Engelsk navn: Autism spectrum disorder due to AUTS2 deficiency
Engelske synonym: ASD due to AUTS2 deficiency,AUTS2 syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 352490
Klassifiseringsnivå: Disorder
ICD-10: F84.1

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