SE-ATLAS

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Bardet-Biedl syndrome Beckwith-Wiedemann syndrome Silver-Russell syndrome Silver-Russell syndrome due to a point mutation Meckel syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Autosomal dominant polycystic kidney disease Beckwith-Wiedemann syndrome due to 11p15 microduplication Syndrome de Joubert Syndrome de Beckwith-Wiedemann dû à une mutation de NSD1