Term Name: Bardet-Biedl syndrome 21
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.
Ontology: Human Disease [DOID:0081010]   ( DOID:0081010 )

Relationships
is a type of: Bardet-Biedl syndrome