COMMON HEREDITARY DISEASES IN KARAKALPAKSTAN
DOI:
https://doi.org/10.5281/zenodo.19347696Keywords:
Karakalpakstan, congenital malformations, primary immunodeficiencies, pediatric health, medical-genetic counseling.Abstract
This article examines the most common hereditary diseases encountered in the Republic of Karakalpakstan and analyzes their clinical and public health significance. The study focuses on the hereditary and genetically related disorders most clearly documented in available regional and international sources, including congenital malformations, chromosomal disorders such as Down syndrome, cleft lip and cleft palate, congenital or hereditary hearing impairment, and primary immunodeficiencies.
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