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Deafness, autosomal dominant 6/14 / Wolfram syndrome
WFS1
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
,
Wolfram syndrome
Centrum Medische Genetica - UZ Antwerpen
Cadasil (exons of EGFL domains (2 - 24 ))
NOTCH3
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Centrum Medische Genetica - UZ Gent
Butyrylcholinesterase deficiency - Pharmacogenetics
BCHE
Butyrylcholinesterase deficiency
Centrum Medische Genetica - UZ Gent
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
,
Heritable pulmonary arterial hypertension
,
Familial cerebral saccular aneurysm
,
Vein of Galen aneurysmal malformation
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
,
Capillary malformation-arteriovenous malformation
,
Parkes Weber syndrome
,
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Capillary malformation – microcephaly
STAMBP
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
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