[citation needed] Genetic testing for mutations in SETBP1 gene can confirm a diagnosis.
[4] Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.
[5] Sleep apnea may also be present, Most children with condition die before 2 years of age.
Death during infancy is due to pneumonia, cardiac arrest, tumors, lung hypoplasia, or seizures.
[7] Children with this condition who survive past infancy have a higher risk of developing tumors.