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Aarskog syndrome (deletion/duplication analysis on FGD1 gene)
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Aarskog syndrome (sequence analysis of FGD1 gene)
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Abetalipoproteinemia (sequence analysis of MTTP gene)
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Absence of ulna and fibula, with severe limb deficiency | Fuhrmann syndrome (deletion/duplication analysis of WNT7A gene)
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Achondrogenesis Ib | Atelosteogenesis, type II | De la Chapelle dysplasia | Diastrophic dysplasia | Diastrophic dysplasia, broad bone-platyspondylic variant | Epiphyseal dysplasia, multiple, 4 (deletion/duplication analysis of SLC26A2 gene)
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Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
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Achondrogenesis type IA (sequence analysis of TRIP11 gene)
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Achondroplasia (sequence analysis of exon 9 of FGFR3 gene)
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Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene)
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Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I and II | Muenke's syndrome (deletion / duplication analysis on FGFR3 gene)
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Achromatopsia (NGS panel of 6 genes)
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Achromatopsia 2 (sequence analysis of CNGA3 gene)
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Achromatopsia 2 (sequence analysis of PDE6C gene)
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Achromatopsia 3 (deletions/duplications in CNGB3 gene)
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Achromatopsia 3 | Macular degeneration, juvenile (sequence analysis of CNGB3 gene)
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Achromatopsia 4 (sequence analysis of GNAT2 gene)
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Achromatopsia 6 (sequence analysis of PDE6H gene)
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Achromesomelic dysplasia, Maroteaux type | Epiphyseal chondrodysplasia, Miura type | Short stature with nonspecific skeletal anomalies (deletions/duplications in the NPR2 gene)
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Acne inversa (sequence analysis of NCSTN gene)
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Aconitase deficiency (sequence analysis of ISCU gene)
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