Institut für Humangenetik der Uniklinik Aachen Assigned diseases:
In the following you will find the diseases that are treated in this facility:
Autosomal dominant polycystic kidney disease
Bardet-Biedl syndrome
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to NSD1 mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Joubert syndrome
Meckel syndrome
Silver-Russell syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to a point mutation
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7