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Deafness, X-linked
POU3F4
Rare mitochondrial non-syndromic sensorineural deafness
,
Xq21 microdeletion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Macular dystrophy
PRPH2
Butterfly-shaped pigment dystrophy
Centrum Medische Genetica - UZ Gent
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia
NKX3-2
,
COL2A1
Centrum Medische Genetica - UZ Gent
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