Reference | 1 | 2 | 3, 4 | 5 | 6 | 7 | 8 | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Pedigree | 1 | 1 | 2 | 1 | 2 | 3 | 1 | 1 | 1 | 1 | 2 | |
Affected cases | 2 | 1 | 2 | 2 | 1 | 2 | 4 | 4 | 2 | 2 | 2 | |
Ethnic origin | Swiss | Pakistan | Asian | Italian | Italian | Italian | North African | Portugal | Lebanon | |||
Consanguineous | + | + | + | + | − | − | − | + | + | + | ||
Arthrogryposis | + | + | + | + | + | + | + | + | + | +/− | +/− | |
Neurogenic muscle change | + | + | ||||||||||
Fanconi syndrome | + | + | + | + | + | + | + | + | + | + | + | |
Nephrogenic diabetes insipidus | + | + | + | + | + | + | + | |||||
Cholestasis | + | + | + | + | + | + | + | + | + | + | ||
Lax skin | + | |||||||||||
Ichthyosis | + | + | + | +/− | ||||||||
Sepsis/fevers | + | + | + | |||||||||
Diarrhoea | + | + | ||||||||||
Failure to thrive | + | + | + | + | + | + | + | + | + | + | + |
+, present; −, absent; blank, not mentioned; +/−, present in some affected members of pedigree but not others.