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Laboratory
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
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Hypochondrogenesis
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Kniest dysplasia
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Multiple epiphyseal dysplasia, Beighton type
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Spondyloepiphyseal dysplasia congenita
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Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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
,
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
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked
FRMD7
Nystagmus, infantile periodic alternating, X-linked
Centrum Medische Genetica - UZ Gent
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