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. 2005 Aug 3;43(5):385–393. doi: 10.1136/jmg.2005.036657

Table 1 Summary of the clinical features of dilated cardiomyopathy with ataxia syndrome.

Patient No Sex Alive at(demise at) DCM Long QT IUGR FTT/growth failure Cerebellar signs/ataxia Microcytic anaemia RaisedAST/ALT Hepatic steatosis Male genitalia Mild/borderline MR Optic atrophy Malformations Other
6 M (8 m) + + + + C D Mullerian remnants
1 M 13 y + + + + + + C +
5 M (4 m) + + + + C,H D, A
22 F (23 m) + + +
21 F (13 m) + + + + + + +
7 M (4 y) + + + + + C,H +
8 M (16 m) + + + + + C
19 M (18 m) + + + + + C +
16 M 11 y + + + + + + +
20 F (3 y) + + + + +
10 M 21 y + + + + + C,H + + + Arachnoid cyst
23 F (4 y) + + + + + Hypothyroidism
11 M 13 y + + + C,H +
9 F (9 m) + + +
24 F 10 y + + + + + + Seizures
12 M 22 y + + + +
13 F 19 y + + +
25 M (8 y) + + + + + + C + Seizures

A, atrial septal defect; ALT, alanine transaminase; AST, aspartate transaminase; C, cryptorchidism; D, diaphragmatic eventration; DCM, dilated cardiomyopathy; F, female; FTT, failure to thrive; H, hypospadias; IUGR, intrauterine growth retardation; M, male; m, months; MR, mental retardation; y, years.