Clinical Characteristics

Recurrent clinical features described in this disorder include:

Central nervous system:
•    Developmental delay
•    Speech delay
•    Motor delay
•    Learning difficulties
•    Intellectual disability – mild to moderate
•    Hypotonia
•    Autism spectrum disorder
•    ADHD/ ADD
•    Seizures

Congenital abnormalities:
•    Congenital heart disease
•    Single kidney, vesico-ureteral reflux, cryptorchidism
•    Eyes: ptosis, coloboma, enopthalmus, anopthalmia, strabismus, congenital obstruction of the ductus nasolacrimalis, microcornea
•    Contractures