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Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Combined immunodeficiency (severe), X-linked
IL2RG
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Centrum Menselijke Erfelijkheid - KUL
Chronic granulomatous disease, X-linked
CYBB
Chronic granulomatous disease
,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Centrum Menselijke Erfelijkheid - KUL
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS))
SLC25A20
Carnitine-acylcarnitine translocase deficiency
Sciensano
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