Fanconi renotubular syndrome 4

A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.

Signs and symptoms

• Large for gestational age
• Elevated circulating alkaline phosphatase concentration
• Hepatomegaly
• Glycosuria
• Proteinuria
• Rickets
• Hypoglycemia
• Elevated circulating hepatic transaminase concentration
• Metabolic acidosis
• Hypophosphatemia