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Achondroplasia, hypochondroplasia
Gene: FGFR3: exons 7,9,12,14
Alagille syndrome, type 1
Gene: JAG1_MLPA
Agenesis corpus callosum, with abnormal genitalia
Gene: ARX
Achondroplasia
Gene: FGFR3: c.1138G˃A/C
Agenesis corpus callosum, with abnormal genitalia
Gene: ARX_MLPA
Achondrogenesis, type 1B
Gene: SLC26A2
Achondroplasia, hypochondroplasia
Gene: FGFR3
Adrenoleukodystrophy
Gene: ABCD1
Acrodysostosis, type 2
Gene: PDE4D
Adams-Oliver Syndrome
Gene: ARHGAP31
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