Table 1

Summary of clinical findings in four non-Finnish Cohen syndrome pedigrees

Pedigree	Patient number	Age (years)	Sex	Head circumference	Typical facial features	Ophthalmologic findings*	Neutropenia†	Brain MRI
*Ophthalmologic findings are according to formal examination by ophthalmologists. Electroretinography was not performed; †presence or absence of neutropenia was determined according to reference range set by each laboratory where the blood count measurement was performed. Patients with no neutropenia did not undergo repeated measurements. N/A, not available.
Omani	1	10	Female	−5.6 SD	Yes	Myopia, retinal dystrophy	No	Relatively large corpus callosum
	2	8	Male	−5.8 SD	Yes	Myopia	No	N/A
	3	5	Male	−5.3 SD	Yes	Myopia	No	N/A
Saudi Arabian	4	9	Female	−5.0 SD	Yes	Retinal dystrophy	N/A	Relatively large corpus callosum, mild inferior vermian hypoplasia
	5	7	Male	−4.6 SD	Yes	N/A	N/A	Mild vermian hypoplasia
	6	2	Female	−3.8 SD	Yes	N/A	N/A	Normal
Japanese	7	13	Female	+0.6 SD	Yes	N/A	No	N/A
	8	11	Male	−2.7 SD	Yes	N/A	N/A	N/A
French	9	27	Male	−2.1 SD	Yes	Retinitis pigmentosa, myopia	Yes	N/A
	10	24	Female	−1.2 SD	Yes	Maculopathy with amblyopia (left), peripheral pigmentation abnormalities (right), bilateral polar cataracts	Yes	N/A
	11	24	Female	−2.7 SD	Yes	Myopia, astygmatism, bilateral polar cataracts	Yes	N/A