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X-linked agammaglobulinemia
BTK
X-linked agammaglobulinemia
Centrum Menselijke Erfelijkheid - KUL
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
MT-ATP6
NARP syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
Silver-Russell syndrome
11p15.5
,
7p12.1
,
7q32.2
Silver-Russell syndrome
,
Silver-Russell syndrome due to an imprinting defect of 11p15
,
Silver-Russell syndrome due to 11p15 microduplication
Centre de Génétique Médicale UCL
Uniparental disomy
7p12.1
,
7q32.2
Silver-Russell syndrome
Centre de Génétique Médicale UCL
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