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Laboratory
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
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Deafness, X-linked
POU3F4
Rare mitochondrial non-syndromic sensorineural deafness
,
Xq21 microdeletion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
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