Table 1.

An overview of all phenotypes observed in affected members of the family 4743 and overlap with WFS-1, -2, WFSL, and CHDFIDD

	V:1	V:3	V:4	WFS-1	WFS-2	WFSL	CHDFIDD
Mode of inheritance	AR	AR	AR	AR	AR	AD	AD
SNHI	Yes	Yes	Yes	Yes	Yes	Yes	No
Diabetes mellitus	Yes	Yes	Yes	Yes	Yes	Yes	No
Diabetes insipidus	Yes	Yes	Yes	Yes	No	No	No
Platelet aggregation	No	No	No	No	Yes	No	No
Cardiac septal defect	Yes	Yes	Yes	No	No	No	Yes
Optic atrophy	Noa	Noa	Noa	Yes	Yes	Yes	No
GI tract abnormalities	Yes	Yes	Yes	No	Yes	No	Yes
Clinodactyly	Yes	Yes	Yesb	No	No	No	Yes
Seizures/Epilepsy	Yes	No	No	Yes	No	No	Yes
ID/DD	No	No	No	Yes	No	No	Yes

WFS-1 Wolfram syndrome-1, WFS-2 Wolfram syndrome-2, WFSL Wolfram syndrome-like, CHDFIDD Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, AR Autosomal recessive, AD Autosomal dominant, GI Gastrointestinal, ID/DD Intellectual disability/developmental disorder.

^aWithin the age of onset for optic atrophy.

^bReported by the parents of V:1, but no radiology was performed.