| Term Name: | Senior-Loken syndrome 4 |
|---|---|
| Synonyms: | |
| Definition: | A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa and that has_material_basis_in homozygous mutation in the NPHP4 gene on chromosome 1p36. |
| Ontology: | Human Disease [DOID:0061278] ( DOID:0061278 ) |