#genetica medicala

• ab origine - A Latin phrase meaning 'from the origin' or 'from the very beginning'. In medical genetics and embryology, it is used to describe a chromosomal anomaly, congenital malformation, or metabolic disorder present in the organism's biological framework since the moment of conception (ab origine), as opposed to conditions acquired later in life.
• Abbasi - Abbasi syndrome refers to a rare eponymic designation found in medical genetics and hematology reports, associated with the description of specific familial cases of congenital anemia or iron storage disorders documented in Middle Eastern clinical studies.
• Abe - A medical eponym linked to researchers in the field of clinical genetics and neuropsychiatry, primarily used to denote the Abe syndrome (or rare East Asian microdeletion/neurodevelopmental variants). It is characterized by severe intellectual disability, distinct craniofacial anomalies, congenital muscular hypotonia, and autistic spectrum behavioral manifestations, studied within the differential diagnosis of neuro-somatic developmental anomalies.
• Abel - A medical eponym correlated with the names of researchers in the field of clinical genetics and biochemistry, primarily used to identify the Abel syndrome (a rare metabolic storage or congenital malformation disorder). In pediatric semiology and neurodevelopment, the Abel symptomatic complex associates severe intellectual disability, characteristic facial dysmorphic features, skeletal anomalies, and profound neuro-muscular hypotonia, requiring specialist multidisciplinary monitoring.