White-Sutton syndrome; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Engelsk navn: White-Sutton syndrome
Engelske synonym: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Definisjon
A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
Fra Orphanet
ORPHA: 468678
Klassifiseringsnivå: Disorder
ICD-10: Q87.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
