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Bardet-Biedl syndrome
1 OMIM reference -
18 associated genes
72 connected diseases
26 signs/symptoms
Disease Type of connection
Meckel syndrome
Retinitis pigmentosa
Senior-Loken syndrome
McKusick-Kaufman syndrome
Joubert syndrome with oculorenal defect
Leber congenital amaurosis
Autosomal recessive limb-girdle muscular dystrophy type 2H
Papillary or follicular thyroid carcinoma
Hereditary fructose intolerance
Renal coloboma syndrome
Autosomal dominant secondary polycythemia
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Acute megakaryoblastic leukemia without Down syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Neurological conditions associated with aminoacylase 1 deficiency
Amyotrophic lateral sclerosis
Distal hereditary motor neuropathy type 7
Perry syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Pseudohypoaldosteronism type 2E
X-linked non-syndromic intellectual deficit
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Young adult-onset Parkinsonism
Spinocerebellar ataxia type 1
Alobar holoprosencephaly
Hermansky-Pudlak syndrome type 7
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Pediatric systemic lupus erythematosus
Feingold syndrome type 1
X-linked lymphoproliferative disease
17p13.3 microduplication syndrome
Acute promyelocytic leukemia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive malignant osteopetrosis
Boomerang dysplasia
Capillary malformation - arteriovenous malformation
Cerebellar ataxia - hypogonadism
Distal 17p13.3 microdeletion syndrome
Estrogen resistance syndrome
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Isolated focal cortical dysplasia type IIb
Lennox-Gastaut syndrome
MALT lymphoma
Miller-Dieker syndrome
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Parkes Weber syndrome
Spondylocarpotarsal synostosis
Tuberous sclerosis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Joubert syndrome
Joubert syndrome with hepatic defect
Senior-Boichis syndrome

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D020788

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Autosomal recessive inheritance
- Generalized obesity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Retinitis pigmentosa / retinal pigmentary changes

- Abnormal / polycystic ovaries
- Chronic arterial hypertension
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Nystagmus
- Short stature / dwarfism / nanism

- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flared eyebrows
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- High nasal bridge
- Hirsutism / hypertrichosis / Increased body hair
- Low set ears / posteriorly rotated ears
- Nephrotic syndrome
- Short neck
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the liver and the biliary tract
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes