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Rett syndrome / MECP2 Duplication Syndrome
MECP2
Rett syndrome
Centrum Menselijke Erfelijkheid - KUL
Rett syndrome
MECP2
Rett syndrome
,
Atypical Rett syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Feingold syndrome
MYCN
Feingold syndrome type 1
Centrum Medische Genetica - UZ Gent
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Glycogen storage disease type 1a
G6PC1
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Centre de Génétique Humaine - CHU Sart-Tilman
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