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Rett syndrome / MECP2 Duplication Syndrome
MECP2
Rett syndrome
Centrum Menselijke Erfelijkheid - KUL
Rett syndrome
MECP2
Rett syndrome
,
Atypical Rett syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.677C>T)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage Pompe disease
Glycogen storage disease due to acid maltase deficiency
,
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)
GAA
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
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