Bardet-Biedl syndrome 21

Term ID

DOID:0081010

Synonyms

Definition

A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/27008867/

References

• OMIM:617406

Ontology

Human Disease   ( DOID:0081010 )