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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
Cerebral folate transport deficiency (2 genes)
FOLR1
,
FOLR2
Cerebral folate transport deficiency (2 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)
GJB2
,
GJB6
,
STRC
,
OTOA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - Erasme ULB
Bile Acid Primary Malabsorption
SLC10A2
Bile acid primary malabsorption
Centre de Génétique Médicale UCL
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