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Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
CSTB
Progressive myoclonic epilepsy type 1
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1
AGPAT2
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Pompe disease, Glycogen storage disease II (GAA gene)
GAA
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
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