This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with<unk>  and therefore it is not a required diagnostic criterion. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum. People with this condition have severe intellectual disability in almost all cases, however, a small minority have moderate intellectual disability. Speech is typically limited or absent. Many of those with<unk>  also have a distinctive open mouthed, smiling expression and friendly personalities.
Mowat–Wilson syndrome
Angelman syndrome
Wilson–Mikity syndrome
Wilson's disease
Wilson's temperature syndrome
Bannayan–Riley–Ruvalcaba syndrome
Rosai–Dorfman disease
Wilson–Turner syndrome