Term Name: Bardet-Biedl syndrome 20
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.
Ontology: Human Disease [DOID:0081009]   ( DOID:0081009 )

Relationships
is a type of: Bardet-Biedl syndrome