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Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
AR
Kennedy disease
Centrum Menselijke Erfelijkheid - KUL
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
AR
Kennedy disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
AR
Kennedy disease
Centrum Medische Genetica - UZ Antwerpen
Kennedy disease / Spinal and bulbar muscular atrophy (SBMA) - AR gene CAG repeat expansion
AR
Kennedy disease
Centrum Medische Genetica - UZ Brussel VUB
Perrault syndrome (gene panel)
TWNK
,
CLPP
,
HARS2
,
HSD17B4
,
LARS2
Perrault syndrome (5 genes) - UZA
Perrault syndrome
Centrum Medische Genetica - UZ Antwerpen
Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
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
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)
GJB2
,
GJB6
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A
GJB2
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
Recessive nonsyndromic hearing loss and deafness (2 genes)
GJB2
,
GJB6
Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - CHU Sart-Tilman
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