Affecting the respiratory and digestive systems, this condition is caused by mutations in the CFTR gene.
Caused by an extra copy of chromosome 21, Down syndrome manifests with developmental delays and distinct physical features.
An inherited blood disorder, this condition results from mutations in the HBB gene, leading to abnormal hemoglobin.
A genetic disorder impairing blood clotting, hemophilia is usually inherited and affects males more often than females.
Caused by a mutation in the HTT gene, this neurodegenerative disorder affects motor and cognitive functions.
A group of disorders characterized by progressive muscle weakness, often due to mutations in dystrophin genes.
An inherited blood disorder, thalassemia results in abnormal hemoglobin production, leading to anemia.
A metabolic disorder caused by mutations in the PAH gene, resulting in the inability to metabolize phenylalanine.
A genetic disorder causing tumors to form on nerve tissue, impacting the nervous system.
A connective tissue disorder, Marfan syndrome is often characterized by tall stature and cardiovascular issues.
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