Term Name: Fanconi renotubular syndrome 5
Synonyms: Acadian-variant Fanconi syndrome
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.
Ontology: Human Disease [DOID:0080761]   ( DOID:0080761 )

Relationships
is a type of: autosomal recessive disease Fanconi syndrome