Genes that may be affected: DLG1, FBXO45, PAK2, and RNF168
Inheritance: autosomal dominant
Clinical features:
(1) developmental and/or intellectual disability
(2) speech delay
(3) autism spectrum disorder, other psychiatric disorders
(4) failure to thrive
(5) feeding problems
(6) cardiac malformations (patent ductus arteriosus, VSD, other)
(7) gastrointestinal disorders (constipation, diarrhea, GERD, dysphagia)
(8) dental abnormalities (dental caries, abnormal spacing, abnormal size, etc)
(9) variable hypotonia
Facial appearance:
(1) long, narrow face
(2) short philtrum
(3) high nasal bridge
(4) large ears
