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Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
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Stickler syndrome type 2
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Autosomal dominant otospondylomegaepiphyseal dysplasia
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
COL2A1
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COL11A1
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COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
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Stickler syndrome type 2
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Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Glycogen storage disease type 1a
G6PC1
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Centre de Génétique Humaine - CHU Sart-Tilman
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
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Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
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Temple syndrome due to maternal uniparental disomy of chromosome 14
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Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
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Angelman syndrome due to paternal uniparental disomy of chromosome 15
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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
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Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
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