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Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)
Leber Congenital Amaurosis - UGent
Leber congenital amaurosis
,
Cone rod dystrophy
,
Retinitis pigmentosa
,
Senior-Loken syndrome
,
Severe early-childhood-onset retinal dystrophy
Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Menselijke Erfelijkheid - KUL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centre de Génétique Médicale UCL
Deafness, X-linked
POU3F4
Rare mitochondrial non-syndromic sensorineural deafness
,
Xq21 microdeletion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
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