Kevin

Kevin is 3 years old and he is in his first year of preschool at a public school. His integration into the school system has gone smoothly. He is a cheerful, calm, affectionate, and happy child.

Kevin has a global developmental delay; Prenatal microcephaly (cranial magnetic resonance imaging performed in September 2023);
Strabismus and decreased visual acuity – uses ocular prostheses and alternating occlusion

Genetic testing was performed. The results indicate that the child is heterozygous for the identified variants. This does not confirm, but also does not exclude, a possible diagnosis. Analysis of copy number variation (CNV) coverage data did not detect any large deletions or duplications that could explain the patient’s phenotype. A genetic consultation has been requested and is pending.