cone-rod dystrophy 22

Term ID

DOID:0081448

Synonyms

Definition

A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. https://pubmed.ncbi.nlm.nih.gov/33077892/

References

• MIM:619531

Ontology

Human Disease   ( DOID:0081448 )