Clinical Characteristics

Key clinical features: hypotonia, mild or moderate intellectual disability, dysmorphic features including horizontal or slightly bowed eyebrows, deep-set eyes, full cheeks, a short nose, and large, forward-facing earlobes. Brachydactyly and syndactyly were also common. Obesity was seen in the three older individuals. Malformations occurred in six individuals and included renal (2/8), cardiac (1/8), and anorectal malformations (2/8) and craniosynostosis (1/8).