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 )

Relationships
is a type of: Senior-Loken syndrome