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Bardet-Biedl syndrome

ORPHA:110 · Disease · Disorder

HPO 表現型（共 95 項）

Obligate (100%)(1)

  • Retinal dystrophyHP:0000556

Very frequent (99-80%)(4)

  • Childhood-onset truncal obesityHP:0008915
  • Cone/cone-rod dystrophyHP:0000548
  • Neurodevelopmental delayHP:0012758
  • ObesityHP:0001513

Frequent (79-30%)(31)

  • Abnormal electroretinogramHP:0000512
  • Abnormal oral cavity morphologyHP:0000163
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the sense of smellHP:0004408
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • BlindnessHP:0000618
  • BrachydactylyHP:0001156
  • Chronic kidney diseaseHP:0012622
  • Cognitive impairmentHP:0100543
  • Color vision defectHP:0000551
  • Decreased circulating HDL-C concentrationHP:0003233
  • Dental crowdingHP:0000678
  • DepressionHP:0000716
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • High palateHP:0000218
  • HypertensionHP:0000822
  • HypertriglyceridemiaHP:0002155
  • HypodontiaHP:0000668
  • HypogonadismHP:0000135
  • Hypoplasia of penisHP:0008736
  • Hypoplasia of the ovaryHP:0008724
  • Impaired fasting glucoseHP:0025691
  • NyctalopiaHP:0000662
  • NystagmusHP:0000639
  • PhotophobiaHP:0000613
  • Postaxial polydactylyHP:0100259
  • Reduced visual acuityHP:0007663
  • Short attention spanHP:0000736
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(54)

  • Abnormal heart morphologyHP:0001627
  • Abnormal speech patternHP:0002167
  • Abnormality of the endocrine systemHP:0000818
  • Abnormality of the gastrointestinal tractHP:0011024
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the vaginaHP:0011026
  • AsthmaHP:0002099
  • AstigmatismHP:0000483
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Emotional labilityHP:0000712
  • Finger syndactylyHP:0006101
  • Generalized hirsutismHP:0002230
  • Hearing impairmentHP:0000365
  • Hepatic fibrosisHP:0001395
  • Hepatic steatosisHP:0001397
  • Horseshoe kidneyHP:0000085
  • HydrometrocolposHP:0030010
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypothyroidismHP:0000821
  • InfertilityHP:0000789
  • Insulin resistanceHP:0000855
  • Intellectual disabilityHP:0001249
  • Irregular menstruationHP:0000858
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • MacrotiaHP:0000400
  • Medial flaring of the eyebrowHP:0010747
  • MicrodontiaHP:0000691
  • Multiple renal cystsHP:0005562
  • Nasal dysarthriaHP:0008376
  • Nephrotic syndromeHP:0000100
  • Neurogenic bladderHP:0000011
  • Otitis mediaHP:0000388
  • Polycystic ovariesHP:0000147
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • RetrognathiaHP:0000278
  • RhinitisHP:0012384
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257
  • StrabismusHP:0000486
  • SyndactylyHP:0001159
  • Talipes equinovarusHP:0001762
  • Type II diabetes mellitusHP:0005978
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(5)

  • Aganglionic megacolonHP:0002251
  • CardiomyopathyHP:0001638
  • Celiac diseaseHP:0002608
  • Fifth finger distal phalanx clinodactylyHP:0005769
  • Inflammation of the large intestineHP:0002037