Table 8.

An example of diagnostic question

Selective question	Non-selective question	Answer	Source
There is a 5.0-year-old female Turkish patient with a mutation in CHD7, namely, c. 2443-2 A > G and with facial phenotypes of Wide nasal bridge, Posteriorly rotated ears, Thin upper lip vermilion, Chorioretinal coloboma, Protruding ear, Proptosis. What disease might this patient have? Choose from the following options: A.Floating-Harbor syndrome (FLHS) B.CHARGE syndrome C.Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) D.Tricho-rhino-phalangeal syndrome,TYPE I(TRPS1)	There is a 5.0-year-old female Turkish patient with a mutation in CHD7, namely, c. 2443-2 A > G and with facial phenotypes of Wide nasal bridge, Posteriorly rotated ears, Thin upper lip vermilion, Chorioretinal coloboma, Protruding ear, Proptosis. What disease might this patient have?	CHARGE syndrome	10.1016/j.gene.2015.11.006