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Bardet-Biedl syndrome 19

Disease Summary
Associated Targets (1)


Mondo Description Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.
Uniprot Description A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Disease Ontology Description A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12.
Mondo Term and Equivalent IDs
MONDO:0014447:  Bardet-Biedl syndrome 19