Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary.

It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems.

[1] This disease is also known as: Variations of the signs and symptoms occur depending upon the area of chromosome 13 that is deleted.

[3] At birth, the main symptoms include low weight (due to intrauterine growth restriction), hypotonia, and feeding difficulties.

They can include epilepsy, craniosynostosis (premature closing of the skull bones), spastic diplegia, cerebral hypotrophy, underdevelopment or agenesis of the corpus callosum, cerebellar hypoplasia, deafness, and, rarely, hydrocephalus, Dandy–Walker syndrome, and spina bifida.

Deletions that include the 13q14 band, which contains the tumor suppressor gene Rb, are associated with a higher risk of developing retinoblastoma, which is more common in XY children.

The meatus, or urinary opening, may appear on the underside of the penis (hypospadis), and/or the testes will not descend into the scrotum (cryptochidism).

They are separated from each other only by a primary constriction, the centromere, the point at which the chromosome is attached to the spindle during cell division.

[3] There are three common anomalies predominately observed in 13q deletion syndrome: congenital heart disease, anorectal/genitourinary, and gastrointestinal tract malformations.

[6] It is important to follow through with genetic testing because there are many other diseases that have similar clinical manifestations of 13q deletion syndrome.

No treatment for 13q deletion syndrome will ever be identical due to the variations in the disease which is why the use of personalized teams with members from different medical fields is vital to the patient.

Some skeletal, neurological, genitourinary, gastrointestinal, and ophthalmic abnormalities can be definitively treated with surgery.