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Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
FGFR1
Pfeiffer syndrome type 1
Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
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)
Clouston syndrome
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia
GJB6
Hidrotic ectodermal dysplasia
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
Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
CANVAS disease - repeat in RFC1 gene
RFC1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Centrum Menselijke Erfelijkheid - KUL
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