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Alagille syndrome, type 2
Gene: NOTCH2 (without exons 2,3,4)
Alagille syndrome, type 1
Gene: JAG1_MLPA
Alexander disease
Gene: GFAP
Albright hereditary osteodystrophy
Gene: GNAS
Alkaptonuria
Gene: HGD
Achondroplasia, hypochondroplasia
Gene: FGFR3: exons 7,9,12,14
Agammaglobulinemia, X-linked
Gene: BTK
Adrenoleukodystrophy
Gene: ABCD1_MLPA
Adrenoleukodystrophy
Gene: ABCD1
Agenesis corpus callosum, with abnormal genitalia
Gene: ARX_MLPA
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