Fanconi renotubular syndrome 5 (DOID:0080761)
Alliance: disease page
Synonyms: Acadian-variant Fanconi syndrome
Alt IDs: OMIM:618913
Definition: A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.