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Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
SH2D1A
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to SH2D1A deficiency
Centrum Menselijke Erfelijkheid - KUL
Lymphoproliferative syndrome, X-linked (XIAP gene)
XIAP
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to XIAP deficiency
Centrum Menselijke Erfelijkheid - KUL
Colon carcinoma (hereditary/familial) (gene panel)
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
APC-related attenuated familial adenomatous polyposis
,
Familial adenomatous polyposis
,
Familial colorectal cancer Type X
,
Generalized juvenile polyposis/juvenile polyposis coli
,
Hereditary mixed polyposis syndrome
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
MUTYH-related attenuated familial adenomatous polyposis
Centrum Medische Genetica - UZ Brussel VUB
Hereditary Polyposis Panel (11 genes) - ULG
APC
,
MUTYH
,
BMPR1A
,
NTHL1
,
SMAD4
,
MSH3
,
POLE
,
POLD1
,
PTEN
,
STK11
,
GREM1
Hereditary Polyposis Panel (11 genes) - ULG
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Turcot syndrome with polyposis
,
Hereditary mixed polyposis syndrome
,
Generalized juvenile polyposis/juvenile polyposis coli
Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel)
APC
,
MUTYH
,
BMPR1A
,
EPCAM
,
GREM1
,
MLH1
,
MSH2
,
MSH3
,
MSH6
,
NTHL1
,
PMS2
,
POLD1
,
POLE
,
PTEN
,
STK11
,
CDH1
,
SMAD4
,
TP53
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
Centre de Génétique Médicale UCL
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
Centrum Medische Genetica - UZ Gent
Brain malformations (gene panel)
Brain malformations (34 genes) - ULB
Septopreoptic holoprosencephaly
,
Semilobar holoprosencephaly
,
Pituitary stalk interruption syndrome
,
Midline interhemispheric variant of holoprosencephaly
,
Lobar holoprosencephaly
,
Alobar holoprosencephaly
,
Encephalocraniocutaneous lipomatosis
,
Hartsfield syndrome
,
Non-syndromic metopic craniosynostosis
,
Pfeiffer syndrome type 1
,
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
,
Combined pituitary hormone deficiencies, genetic forms
,
Situs ambiguus
,
Situs inversus totalis
,
Gorlin syndrome
,
Schilbach-Rott syndrome
,
Triphalangeal thumb-polysyndactyly syndrome
,
Acquired schizencephaly
,
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
,
Radial hemimelia
,
Polydactyly of a triphalangeal thumb
,
Syndactyly type 4
,
Acrocallosal syndrome
,
Desmoplastic/nodular medulloblastoma
,
Familial multiple meningioma
,
Meningioma
,
Congenital non-communicating hydrocephalus
,
MASA syndrome
,
X-linked complicated corpus callosum dysgenesis
,
X-linked complicated spastic paraplegia type 1
,
Congenital communicating hydrocephalus
Centre de Génétique Humaine - Erasme ULB
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