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Achondroplasia
Gene: FGFR3: c.1138G˃A/C
Adams-Oliver Syndrome
Gene: ARHGAP31
Adenosine monophosphate deaminase deficiency
Gene: AMPD1
Agammaglobulinemia, X-linked
Gene: BTK
Adrenoleukodystrophy
Gene: ABCD1_MLPA
Adrenoleukodystrophy
Gene: ABCD1
Acrodermatitis enteropathica
Gene: SLC39A4
Acrodysostosis, type 1
Gene: PRKAR1A
Acrodysostosis, type 2
Gene: PDE4D
Aarskog syndrome
Gene: ABCD1_MLPA
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