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Alpha-thalassemia
Gene: HBA
Alagille syndrome, type 1
Gene: JAG1
Alagille syndrome, type 2
Gene: NOTCH2 (without exons 2,3,4)
Alexander disease
Gene: GFAP
Alkaptonuria
Gene: HGD
Alpha-1-antitrypsin deficiency
Gene: AAT (SERPINA1)
Albright hereditary osteodystrophy
Gene: GNAS
Achromatopsia, type 2
Gene: CNGA3
Achromatopsia, type 3
Gene: CNGB3
Achromatopsia, type 4
Gene: GNAT2
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