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Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg)
FGFR3
Achondroplasia
Centre de Génétique Humaine - CHU Sart-Tilman
Capillary malformation - arteriovenous malformation (2 genes)
RASA1
,
EPHB4
Capillary/arteriovenous malformation (2 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Capillary malformation-arteriovenous malformation
,
Vein of Galen aneurysmal malformation
,
Parkes Weber syndrome
Centre de Génétique Médicale UCL
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
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
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