← Phenotype matcher

Bardet-Biedl SyndromePrimary

114 records · 61 HPO terms · 28 gene(s) · also known as BBS

Associated genes

ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CCDC28B CEP290 CFAP418 IFT172 IFT27 IFT57 IFT74 IFT81 LZTFL1 MKKS MKS1 SCLT1 SDCCAG8 TMEM67 TRIM32 TTC21B TTC8 WDPCP

Top symptoms

Intellectual disability / developmental delay HP:000124913 record(s)
Cohort description10 record(s)
Polydactyly HP:00011627 record(s)
Renal failure / ESRD / CKD HP:00000836 record(s)
Renal hypoplasia / dysplasia HP:00001106 record(s)

Symptoms by organ system

CNS · 22 record(s)
Intellectual disability / developmental delay HP:0001249×13
Ataxia / gait abnormality HP:0001251×2
Hydrocephalus HP:0001085×2
Macrocephaly HP:0000256×1
Microcephaly HP:0000252×1
Speech / language abnormality HP:0002463×1
Other / unclassified (CNS) HP:0000707 (organ root)×1
Strabismus HP:0000486×1
Renal · 18 record(s)
Renal failure / ESRD / CKD HP:0000083×6
Renal hypoplasia / dysplasia HP:0000110×6
Glomerular abnormality HP:0000095×3
Renal cysts / cystic kidney HP:0000107×2
Tubulointerstitial nephropathy HP:0001970×1
Eye · 14 record(s)
Retinal dystrophy (other / unspecified) HP:0000556×5
Refractive error HP:0000539×3
Macular dystrophy / abnormality HP:0007754×2
Cataract HP:0000518×1
Cone-rod dystrophy HP:0000548×1
Visual impairment / blindness HP:0000505×1
Abnormal ERG / electroretinogram HP:0000512×1
Methodology · 13 record(s)
Cohort description×10
Phenotypic variability descriptor×2
Diagnostic / classification criterion×1
Skeletal · 10 record(s)
Polydactyly HP:0001162×7
Brachydactyly / short digits HP:0001156×1
Skeletal dysplasia (general/unspecified) HP:0002652×1
Syndactyly / webbed digits HP:0001159×1
Reproductive · 8 record(s)
Hypogonadism / hypogonadotropic hypogonadism HP:0000044×2
Olfactory bulb hypoplasia / anosmia HP:0000458×2
Uterine / vaginal abnormality HP:0000130×1
Cryptorchidism HP:0000028×1
Hypospadias HP:0000047×1
Micropenis HP:0000054×1
Craniofacial · 7 record(s)
Dental anomaly HP:0000164×5
Skull base / cranial vault abnormality HP:0002692×1
High-arched / narrow palate HP:0000218×1
Respiratory · 6 record(s)
Recurrent respiratory infections / bronchiectasis HP:0002783×2
Asthma HP:0002099×1
Lung lobation / structural abnormality HP:0002088×1
Other / unclassified (Respiratory) HP:0002086 (organ root)×1
Situs inversus / heterotaxy (organ-level) HP:0001696×1
Cardiac · 5 record(s)
Cardiomyopathy HP:0001638×2
Septal defect (ASD/VSD/AV canal) HP:0001671×1
Dextrocardia / cardiac malposition HP:0001651×1
Atrial isomerism / heterotaxy HP:0001696×1
Endocrine · 4 record(s)
Obesity / hyperphagia HP:0001513×2
Diabetes mellitus HP:0000819×1
Lipid metabolism / dyslipidaemia HP:0003119×1
GI_Abdominal · 3 record(s)
Hirschsprung disease / aganglionic bowel HP:0002251×1
Intestinal / GI structural anomaly HP:0011024×1
Pancreatic insufficiency / pancreatitis HP:0001733×1
Hepatic · 2 record(s)
Elevated transaminases / abnormal liver enzymes HP:0002910×1
Hepatic fibrosis / cirrhosis HP:0001395×1
Auditory · 1 record(s)
Sensorineural hearing loss / deafness HP:0000407×1
Vascular · 1 record(s)
Vascular attenuation / abnormal vasculature HP:0002597×1