retinitis pigmentosa 89

Term ID

DOID:0112146

Synonyms

• RP89

Definition

A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. https://pubmed.ncbi.nlm.nih.gov/32386558/

References

• OMIM:618955

Ontology

Human Disease   ( DOID:0112146 )