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Mc Ardle disease, glycogene storage disease type V
PYGM
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Waardenburg Syndrome types I and III
PAX3
Waardenburg syndrome type 1
,
Waardenburg syndrome type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Tuberous sclerosis (2 genes)
TSC1
,
TSC2
Tuberous sclerosis complex
Centre de Génétique Médicale UCL
Anterior segment dysgenesis
Anterior segment dysgenesis - UGent
Anterior segment developmental anomaly
,
Axenfeld-Rieger syndrome
,
Rieger anomaly
Centrum Medische Genetica - UZ Gent
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