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Albright hereditary osteodystrophy
Gene: GNAS
Alpha-1-antitrypsin deficiency
Gene: AAT (SERPINA1)
Alagille syndrome, type 1
Gene: JAG1
Achromatopsia, type 3
Gene: CNGB3
Achondroplasia, hypochondroplasia
Gene: FGFR3: exons 7,9,12,14
Achondrogenesis, type 1B
Gene: SLC26A2
Achondroplasia, hypochondroplasia
Gene: FGFR3
Achondroplasia
Gene: FGFR3: c.1138G˃A/C
Agenesis corpus callosum, with abnormal genitalia
Gene: ARX
Adrenoleukodystrophy
Gene: ABCD1
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