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Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
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
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