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This patient exhibited nuclear and lamellar opacities, developmental delay, spastic hemiparesis, and cryptogenic neonatal cirrhosis, suggesting a broader pathogenic role for CYP51A1 mutations beyond isolated cataract formation [81]
[14] Urgent referral should also be considered for those under 50 with rectal bleeding plus other concerning features, those aged 40+ with unexplained weight loss and abdominal pain, and those aged 60+ with change in bowel habit or iron-deficiency anaemia
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