Introduction. Velocardiofacial syndrome, or Di George (22q11.2 deletion), is the most common microdeletion syndrome encountered in humans. In infants, it usually presents with the triad: immunodeficiency, congenital cardiac anomalies, and hypocalcemia due to hypoparathyroidism. Aim of the study. To highlight the clinical-genetic and neurological aspects of Di-George syndrome by studying a clinical case based on determining the association between the neurological picture and the characteristic genetic mutation. Results. Patient A.M. age 11.9 years, was admitted for generalized tonic seizures in the paediatric neurology ward. History: term-born, weight 3700 g., delayed neuropsychological development during the period up to referral (walked at ~1.8 years, started to say first words at 3 years. He was investigated for recurrent wheezing attacks at ~5 years. He underwent adenoidectomy, tonsillectomy, and tear duct dilation. At school age, he presented with learning disabilities. Physical examination: coarse facial appearance, elongated face, narrow forehead, small low-set ears, nasal voice. Chvostek and Trousseau signs - positive. Laboratory data: hypocalcemia (6 mg/dl) and hyperphosphatemia (10mg/dl); parathyroid hormone (PTH) - low level (13.3pg/ml); thyroid hormones, cortisol, prolactin, and follicle stimulating hormone - values in the norm. The deletion 22q11.2 was detected. Conclusions. There is no clear phenotypegenotype association in Di-George syndrome (22q11). However, multiple phenotypic variabilities are observed even among family members with the same mutations. Thus, early diagnosis can be difficult, based on clinical features (characteristic facial features and level of neuropsychological development). But genetic diagnosis cannot provide information about the severity of neurological manifestations in compromised patients.