Reference | Current series | Deal et al | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Pedigree | 1 | 2 | 3 | 4 | 5 | 1 | 2 | 3 | 4 | |
Affected cases3-151 | 2 (1, 2) | 1 (3) | 1 (4) | 1 (5) | 1 (6) | 3 | 2 | 1 | 2 | |
Ethnic origin | Pakistan | Pakistan | Pakistan | Pakistan | Pakistan | Pakistan | Pakistan | Pakistan | Oman | |
Consanguineous | + | + | − | + | + | + | + | + | + | |
Arthrogryposis | + | + | + | + | + | + | + | + | + | |
Neurogenic muscle change | + | + | + | + | + | |||||
Fanconi syndrome | + | + | + | + | − | + | + | + | + | |
Nephrogenic diabetes insipidus | 3-150 | 3-150 | 3-150 | 3-150 | + | 3-150 | 3-150 | 3-150 | ||
Cholestasis | + | + | + | + | + | + | + | + | + | |
Lax skin | + | + | + | |||||||
Ichthyosis | + | + | + | + | + | |||||
Sepsis/fevers | + | + | + | + | + | + | + | + | + | |
Diarrhoea | + | + | + | + | + | + | + | + | + | |
Failure to thrive | + | + | + | + | + | + | + | + | + | |
Abnormal platelets | + | + | + | + | + | + |