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Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306)
F5
Congenital factor V deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Lissencephaly, X-linked / subcortical band heterotopia
DCX
Lissencephaly type 1 due to doublecortin gene mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
Sorsby fundus dystrophy (TIMP3)
TIMP3
Sorsby pseudoinflammatory fundus dystrophy
Centrum Medische Genetica - UZ Gent
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
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