Rare Disease Library

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Histidinuria-renal tubular defect syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

Radio-renal syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome