Classification | Clinical characteristics |
---|---|
Classical clinical feature | Arthrogryposis |
Renal tubular dysfunction | |
Neonatal cholestatic jaundice | |
Additional clinical feature | Ichthyosis |
Platelet abnormality | |
Agenesis of the corpus callosum | |
Congenital cardiovascular anomalies | |
Deafness | |
Recurrent sepsis | |
Hypothyroidism | |
Nephrogenic diabetes insipidus |