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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Am J Med Genet A. 2017 Nov 1;176(1):235–240. doi: 10.1002/ajmg.a.38502

TABLE 1.

Clinical features of patients with CAPOS syndrome

Nicolaides et al. (1996) Demos et al. (2014) Rosewich et al. (2014) Heimer et al. (2015) Potic et al. (2015) Maas et al. (2016) Current cases 2017
Case 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25
Demographics
 Gender M F F F M M M F F M M F M F M M F M F F M F M F M
 Age of onset 16 m 18 m 9 m 5 y 9 m 18 m 6 m 3 y 1 y 3 y 20 m 2 y 9 m 4 y 4 y 3 y 4 y 4 y 1 y 4 y 3 y 3 y 22 m 18 m 9 m
 Number of episodes 3 1 1 1 3 1 2 3 3 2 2 2 2 2 1 1 2 1 2 2 1 3 3 6 2
 Ethnicity British French Canadian British German Israeli Slavic Dutch Mixed European
Symptoms
Cerebellar ataxia + + + + + + + + + + + + + + + + + + + + + + + + +
Areflexia + + + + + + + + + + + + + + + + + + + + + + + + +
Hearing loss + + + + + + + + + + + + + + + + + + + + + + + + +
Optic atrophy + + + + + + + + + + + + + + + + + + + + + + + + +
Pes cavus + + + + + + + + +
 Dysarthria + + + + + + + + +
 Dysphagia + + + + +
 Hypotonia + + + + + + + + + + + + + + + + + +
 Lethargy + + + + + + + + + + + + + +
 Strabismus + + + + + + + +
 Nystagmus + + + + + + + + + + + + +
 Dystonia + + + +
 Autism + + +
 Anxiety + + + +
 LV enlargement + +
 Full CAPOS + + + + + + + + +