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Phenotype studies in patients and model systems:
WAC haploinsufficiency as an example
Facial features:
Downslanting palpebral fissures, Broad chin, Carp shaped mouth, Full square face, Typical light blue eyes
Lugtenberg et al. EJHG 2016
Drosophila melanogaster
Habituation assay
time
The number of ID genes still steadily increases
Vissers, Gilissen & Veltman. Nat Rev Genet 2016
2018: 1,032 ID genes
New genes mostly dominant disease genes with de novo mutations as underlying disease mechanism
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Jump response to stimulus