Chromosome: 10p12.1-p11.2
Gene: WAC (WW domain containing adaptor with coiled-coil)
Inheritance: autosomal dominant
Clinical features:
(1) developmental delay and/or intellectual behavior
(2) behavioral problems (anxiety, attention deficit with hyperactivity, autism spectrum disorder, aggression, self-injurious)
(3) neonatal hypotonia
(4) feeding problems
(5) mild facial dysmorphic features
(6) variable respiratory problems including recurrent respiratory infections
(7) variable problems in hearing and/or vision
(8) variable hypogammaglobulinemia
(9) brachydactyly
(10) variable seizure disorder
Facial dysmorphic features are often mild and sometimes nonspecific:
(1) prominent broad forehead
(2) hypertelorism
(3) epicanthal folds
(4) posteriorly rotated ears
(5) depressed nasal bridge
(6) bulbous nasal tip
(7) thin upper lip
(8) macroglossia
(9) wide mouth
