Term Name: | Bardet-Biedl syndrome 22 |
---|---|
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. |
Ontology: | Human Disease [DOID:0081011] ( DOID:0081011 ) |