Human genes for Fanconi renotubular syndrome 5
Fanconi renotubular syndrome 5 [DOID:0080761]
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.
Synonyms: Fanconi renotubular syndrome 5, DOID:0080761, Acadian-variant Fanconi syndrome, Acadianvariant Fanconi syndrome, Acadian-variant Fanconi disease ...