A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

BMC Medical Genetics

Table 3 Clinical features of WFS1, WFS2, and of our case

Clinical features	WFS 1	WFS2	WFS2 our case
Diabetes mellitus	X	X	X
Optic atrophy	X	X
Sensorineuronal Deafness	X	X	X
Diabetes Insipidus	X
Neurological and Psychiatric disorders	X
Genitourinary tract problems	X
Male hypogonadism	X
Bowel disfunction	X		X
Upper intestinal ulcers		X	X
Platelet aggregation defects to collagen		X
Platelet aggregation defects to ADP			X
Optic neuropathy			X

ISSN: 1471-2350