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Hirschsprung disease
Hirschsprung disease - Ugent
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 2B
,
Familial medullary thyroid carcinoma
,
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Hirschsprung disease
RET
Hirschsprung disease
Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease
RET
Hirschsprung disease
Centre de Génétique Médicale UCL
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
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XX testicular difference of sex development
,
46,XY complete gonadal dysgenesis
,
46,XY partial gonadal dysgenesis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XY complete gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XY partial gonadal dysgenesis
,
46,XX testicular difference of sex development
Centre de Génétique Humaine - CHU Sart-Tilman
Chronic granulomatous disease, X-linked
CYBB
Chronic granulomatous disease
,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Centrum Menselijke Erfelijkheid - KUL
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