[1] Part A of the journal focuses on specific domains within the discipline of medical genetics.

Specifically, it is focused on the study of the cause and pathogenesis (including molecular analyses); delineation (including phenotype analyses, natural history, variability, nosology, and newly recognized syndromes); and management (including genetic counseling, care guidelines, and treatment) of human congenital anomalies and genetic disorders.

While recognizing the existence of thousands of human genetic conditions, the journal focuses on phenotypically driven analyses of disorders of morphogenesis, metabolism, and neurogenetics, especially intellectual disability and related neurodevelopmental conditions.

Other principal themes of the journal include the epidemiology of congenital malformations, behavioral phenotypes of syndromes, and astute clinical observations.

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