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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
Beckwith-Wiedemann syndrome (11p15 methylation)
H19
,
KCNQ1OT1
,
IGF2
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome
Centrum Menselijke Erfelijkheid - KUL
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
PANK2
Classic pantothenate kinase-associated neurodegeneration
,
Atypical pantothenate kinase-associated neurodegeneration
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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