Bardet-Biedl syndrome 20

Term ID

DOID:0081009

Synonyms

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/

References

• OMIM:619471

Ontology

Human Disease   ( DOID:0081009 )