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Oculopharyngeal Muscular Dystrophy - GCN repeats expansion
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Menselijke Erfelijkheid - KUL
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Usher syndrome, type IIA
USH2A
Usher syndrome type 2
Centrum Medische Genetica - UZ Gent
Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Lissencephaly / subcortical band heterotopia
PAFAH1B1
Lissencephaly due to LIS1 mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (LIS1 gene)
PAFAH1B1
Lissencephaly due to LIS1 mutation
Centrum Medische Genetica - UZ Brussel VUB
Hyperoxaluria
AGXT
,
GRHPR
,
HOGA1
Primary hyperoxaluria type 1
,
Primary hyperoxaluria type 2
,
Primary hyperoxaluria type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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