has characteristic has characteristic syndromic disease ciliopathy autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Bardet-Biedl syndrome https://www.malacards.org/card/bardet_biedl_syndrome SCTID:5619004 BBS MEDGEN:156019 MedDRA:10056715 MONDO:0015229 MESH:D020788 GARD:0006866 NORD:838 icd11.foundation:255526264 NCIT:C118632 UMLS:C0752166 NANDO:2200414 DOID:1935 A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems Orphanet:110 ICD9:759.89 Bardet-Biedl syndrome OMIMPS:209900 congenital hypogonadotropic hypogonadism obsolete syndromic genetic obesity familial cystic renal disease obsolete syndromic retinitis pigmentosa female infertility congenital intestinal motility disease obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome