All patients have intellectual disability. Patients may also have some or all of the following abnormalities:
Mental impairment
Abnormal teeth
Stunted growth
Slanted eyes
Umbilical hernia
Shortened hands
Increased skin at the back of the neck
Short neck
Hypotonia
Obstructive sleep apnea
Ligamentous laxity
Single transverse palmar crease (Simian crease)
Large tongue
Congenital heart disease
Flattened nose
Strabismus
Undescended testicles
Down syndrome
Vaughn Jackson syndrome
Retinoic acid syndrome
Cerebral palsy
Grey baby syndrome
Parsonage-Turner syndrome
Marfan syndrome
Kounis syndrome