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Nijmegen Breakage Syndrome
NBN
Nijmegen breakage syndrome
Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome
NBN
Nijmegen breakage syndrome
Centrum Medische Genetica - UZ Gent
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR
TSHR
Familial hyperthyroidism due to mutations in TSH receptor
,
Hypothyroidism due to TSH receptor mutations
,
Familial gestational hyperthyroidism
Centre de Génétique Humaine - Erasme ULB
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)
GJB2
,
GJB6
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A
GJB2
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)
GJB2
,
GJB6
,
STRC
,
OTOA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes)
GJB2
,
GJB6
Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - CHU Sart-Tilman
Deficiency of Vitamin K-Dependent Clotting Factors
VKORC1
,
GGCX
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency
GGCX
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
,
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
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