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Neurofibromatosis type 1 / Legius syndrome (2 genes)
NF1
,
SPRED1
Neurofibromatosis type 1
,
Legius syndrome
Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
Cutis Laxa / Geroderma osteodysplasticum (gene panel)
Cutis Laxa / Geroderma osteodysplasticum - UGent
Autosomal dominant cutis laxa
,
Geroderma osteodysplastica
Centrum Medische Genetica - UZ Gent
FSHR - Ovarian Hyperstimulation Syndrome
FSHR
Ovarian hyperstimulation syndrome
,
Primary ovarian failure (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
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