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Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
ADA2
Vasculitis due to ADA2 deficiency
,
Diamond-Blackfan anemia
,
Sneddon syndrome
Centrum Menselijke Erfelijkheid - KUL
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
PANK2
Classic pantothenate kinase-associated neurodegeneration
,
Atypical pantothenate kinase-associated neurodegeneration
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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