is an inherited blood disorder that reduces the body’s hemoglobin production.

is an inherited disorder that can affect the lungs and liver.

is a rare genetic muscle disease causing progressive, late-onset weakness and cardiomyopathy.

is a rare genetic condition affecting eye lens clarity, muscles, and heart.

is a genetic muscle disorder causing progressive hip and shoulder weakness.

is a rare immune disorder of the gut causing malabsorption and diarrhea.

is a rare inherited lysosomal disorder causing developmental, immune, and skeletal problems.

is a rare genetic lysosomal disorder with adult-onset neurologic and skeletal symptoms.

is a rare inherited lysosomal disorder causing early developmental delay and infections.

is a rare genetic disorder affecting bile acid production and branched fats.

is a rare inherited enzyme disorder causing lysosomal storage and multisystem problems.

is a rare genetic enzyme disorder causing severe early neurodegeneration and regression.

is a rare inherited lysosomal enzyme disorder with skin and nerve symptoms.

is a rare inherited enzyme disorder with variable neurologic and skin symptoms.

is a genetic disorder causing progressive hip and shoulder muscle weakness.

is an inherited blood disorder affecting hemoglobin, causing mild to severe anemia.

are inherited blood disorders causing reduced alpha-globin production and anemia.

is a rare chromosome 16 disorder causing anemia and learning difficulties.

is a rare bone marrow disorder causing anemia, infections, and bleeding.

is a rare inherited disorder causing intellectual disability and alpha-thalassemia.

is a rare genetic disorder causing early-onset intestinal inflammation and diarrhea.

is a genetic condition causing progressive kidney disease, hearing loss, eye problems.

is a rare genetic syndrome with kidney disease, intellectual disability, and elliptocytosis.

is a rare genetic disorder causing vision, hearing, heart, and metabolic problems.