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Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centrum Medische Genetica - UZ Antwerpen
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1
AGPAT2
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Multiple osteochondromas (2 genes)
EXT1
,
EXT2
Multiple osteochondromas (2 genes) - UZA
Multiple osteochondromas
Centrum Medische Genetica - UZ Antwerpen
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