A.	Pekkinen et al. (4)
Family	Family 1			Family 2	Family 3					Family 4
Relationship	Index	Father	Father´s mother	Index	Index	Sister	Brother	Mother	Mother´s mother	Index
Path. variant	p.Arg50*			p.Arg50*	p.Arg50*					p.Arg50*
Sex	Female	Male	Female	Male	Female	Female	Male	Female	Female	Female
Age (yrs)	22	59	85 (dec)	27	9	12	4	37	60	6
Ethnicity	Finnish			Finnish	Caucasian (USA)					N. European
Height (SD)	+0.4	−0.1	N/A	−1.1	−2.7	−2	−3.2	−1.6	−0.2	−0.8
Peripheral fx	6	>9	>14	9	0	1	0	2	15	6
Spinal fx	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes
BMD Z score	−1.4 (at 12 yrs, BT)	−1.9 (at 48 yrs, BT)	N/A	−3.4 (at 15 yrs, BT)	−5.3 (at 5 yrs)	−5.2 (at 8 yrs)	−5.8 (at 4 yrs)	−3.8 (at 34 yrs)	N/A	−15.5 (at 5 yrs, BT)
Skeletal dysplasia	Mild scoliosis	Mild scoliosis	Mild scoliosis	Mild scoliosis	Mild scoliosis	None	None	None	None	None
Skull findings	Few sclerotic lesions	Multiple sclerotic lesions	Irregular diffuse thickening	One sclerotic lesion	Normal	Few sclerotic lesions	Normal	Normal	Sclerotic lesions	Normal
Feature of ocular and auditory systems	Congenital glaucoma	Oculomotorius, and trochlearis paresis	Glaucoma, oculomotorius, and abducens paresis	None	None	None	None	None	None	Mild myopia
Others	Pain and swelling in knee and ankle joints	Chronic duodenal inflammation, abdominal pain, sleep apnea	Diverticulosis, peptic ulcers, atherosclerosis, asthma, hypertension, chronic atrial fibrillation	Mild facial dysmorphia; low nasal bridge, midfacial hypoplasia, colitis	Upper thoracic syringohydro-myelia	None	None	None	Constipation, bone pain (arms), joint pain (ankles and knees)	None