Bardet-Biedl syndrome 22

Term ID

DOID:0081011

Synonyms

Definition

A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. https://pubmed.ncbi.nlm.nih.gov/27486776/

References

• OMIM:617119

Ontology

Human Disease   ( DOID:0081011 )