| Metadata | |
|---|---|
| ID | DOID:0081009 |
| Name | Bardet-Biedl syndrome 20 |
| Definition | A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/24290075/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |