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Bardet biedl syndrome

Bardet Biedl Syndrome is a rare genetic disorder with highly variable symptoms which may include retinal degeneration, obesity, reduced kidney function, polydactyly (extra digits of the hands or feet) among many other features. While there are more than 20 genes associated with BBS, the underlying cause regardless of gene is malfunction of primary. Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye ( the retina) gradually. 1. Clinical Characteristics of Bardet-Biedl Syndrome 2. Causes of Bardet-Biedl Syndrome 3. Evaluation Strategies to Identify the Genetic Cause of Bardet-Biedl Syndrome in a Proband 4. Management of Bardet-Biedl Syndrome 5. Genetic Counseling of Family Members of an Individual with Bardet-Biedl Syndrome Resource Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical m . Bardet-Biedl syndrome (BBS) is a rare.

What is BBS? — Bardet Biedl Syndrome Foundatio

Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder that can lead to dysfunction of multiple organ systems, including the kidneys, genitalia, brain, and eye. Etiology BBS is caused by mutations of proteins involved in function of the cilium, a specialized cellular organelle common to many specialized cell types throughout the body

Bardet-Biedl Syndrome is a rare, recessively inherited ciliopathy which affects approximately 1 in 100,000 babies born Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation. The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa; intellectual disability; renal structural anomalie Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by obesity, mental retardation, retinal degeneration, and cystic kidneys (Zaghloul and Katsanis, 2009). Thus far, mutations in 14 genes have been linked to this ciliopathy

Bardet-Biedl syndrome (BBS) Bardet-Biedl (pronounced BAR-day BEED-el) syndrome, also known as BBS, is a rare genetic disorder of obesity that has a wide range of symptoms, including early-onset obesity and insatiable hunger Le syndrome de Bardet-Biedl est une maladie rare dont la prévalence (nombre de personnes atteintes dans une population à un moment donné) est comprise entre 1 sur 100 000 et 1 sur 160 000 pour les populations d'Europe et d'Amérique du Nord. Ce syndrome est beau-coup plus fréquent dans certaines populations isolées comme les populations bédouines du Koweït où la prévalence est estimée à 1 sur 13 500 BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900)

Bardet-Biedl syndrome: MedlinePlus Genetic

  1. We present a 12-year-old female with Bardet-Biedl syndrome (BBS) who was referred to our department for pre-transplant evaluation due to end stage renal disease, one of the primary features of BBS syndrome. Imaging Findings. A 12-year-old female already diagnosed with BBS syndrome underwent pre-kidney-transplant CT imaging evaluation, exhibiting.
  2. Bardet-Biedl syndrome is a rare genetic disease that causes a variety of symptoms. It is considered to be a ciliopathic human genetic disorder because the mutations that cause the syndrome affect the function of cilia, which are tiny hair-like protrusions located on the outside of cells
  3. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism...

Bardet-Biedl Syndrome Overview - PubMe

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999).Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by. Bardet-Biedl Syndrome (BBS) is a rare genetic condition that affects many parts of the body. Its effects can include obesity, vision loss, additional fingers and/or toes (polydactyly), undeveloped genitals, learning disabilities and kidney failure. BBS is seen in about 1 in 100,000 of the general population of the UK, but is more common in. Bardet-Biedl syndrome (BBS) is a rare genetic disorder present from birth that affects many parts of the body. Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with BBS. BBS affects almost every organ system, and its diagnosis is based on different features of BBS such as

Bardet-Biedl syndrome | Breda Genetics srl

Bardet-Biedls syndrom (BBS) kännetecknas av en kombination av synnedsättning, övervikt, extra fingrar och/eller tår, små könsorgan, nedsatt njurfunktion och inlärningssvårigheter. Andra symtom förekommer också C0752166 [conceptid] - MedGen Result. 1. Title: Bardet-Biedl syndrome Definition: Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Vision loss is one of the major features of Bardet-Biedl syndrome

A child with Bardet-Biedl Syndrome has both copies of an important gene misprinted. This leads to photoreceptors breaking down and stopping working. It also leads to the other conditions seen in Bardet-Biedl Syndrome. . There are now 8 different genes know to cause Bardet-Biedl Syndrome Het Bardet-Biedl syndroom . Wat is het Bardet-Biedl syndroom? Het Bardet-Biedl syndroom is een erfelijke aangeboren aandoening waarbij kinderen een ontwikkelingsachterstand hebben in combinatie met problemen met zien, een typisch uiterlijk en een verhoogd risico op het krijgen van overgewicht Bardet-Biedl Syndrome is a rare genetic disease that affects many parts of the body.•Impaired vision•Obesity•Urinary and genital organ function•Chronic kidne.. Bardet Biedl is also a disease which is closely related to brain disorder. Bardet Biedl is a dangerous disorder and off course result in various abnormalitie..

Bardet-Biedl syndrome - PubMe

Bardet Biedl Syndrome. June 18, 2012 ·. So I posted the meeting tumbler notes. I did not make it to the conference, as my wife were meeting milestones in our lives. She graduated from UCSD in History with Honors. And I was at UCLA taking a dental board exam for a new postion RDAEF II. Zac is doing well Bardet-Biedl syndrome; معلومات عامة الاختصاص: علم الوراثة الطبية من أنواع: اضطراب صبغي جسدي متنحي [لغات أخرى] ، وسمنة متلازمية [لغات أخرى] التاريخ سُمي باسم: آرثر بيدل [لغات أخرى Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4

Bardet-Biedl Syndrome: The University of Iowa, Ophthalmology

Bardet-Biedl syndrome - Wikipedi

Bardet-Biedl Syndrome - NORD (National Organization for

  1. Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family of diseases caused by defective cilia collectively known as ciliopathies
  2. Bardet Biedl Syndrome is an extremely rare genetic disorder that is usually inherited. It is usually diagnosed during childhood, and has a negative effect on the life expectancy on the sufferer. Currently, there is no cure for the disease and it has an unfavourable prognosis. At present, medical interventions concentrate solely on treating the.
  3. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by central obesity, retinal pigmentation, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Other features are deafness, diabetes mellitus, genitourinary abnormalities, short stature, hormonal abnormalities, developmental defects, and speech.

Bardet-Biedl Syndrome - EyeWik

🥇 Bardet-Biedl's syndrome: causes and principal symptoms

Bardet-Biedl Syndrome - BBSU

Self-Management - Laurence Moon Bardet Biedl Syndrome

Certain ciliary signaling proteins couple with the BBSome, a conserved complex of Bardet-Biedl syndrome (BBS) proteins, to load onto retrograde intraflagellar transport (IFT) trains for their removal out of cilia in Chlamydomonas reinhardtii.Here, we show that loss of the Arf-like 6 (ARL6) GTPase BBS3 causes the signaling protein phospholipase D (PLD) to accumulate in cilia Bardet-Biedl syndrome; CMV retinitis. This is a type of retinitis that develops from a viral infection of the retina. CMV (cytomegalovirus) is a herpes virus. Most people have been exposed to the. Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills Bardet-Biedl Syndrome Overview. Bardet-Biedl syndrome is a rare, inherited disorder that causes a number of abnormalities in the way certain parts of the body function, including a person's vision. Named after Georges Bardet and Arthur Biedl, the physicians who independently described the disorder in the 1920s, vision loss associated with the.

Bardet-Biedl syndrome Radiology Reference Article

LNMS was later termed Laurence-Moon-Bardet-Biedl syndrome because of similarities with Bardet-Biedl syndrome (BBS). It is often considered, but still debated, whether BBS is a distinct condition. Arguments are based on differences in the underlying genetic causes of these the disorders (see Related Disorders) Bardet-Biedl Syndrome is a rare, recessively inherited ciliopathy which affects approximately 1 in 100,000 babies born. rod-cone dystrophy, a progressive eye disorder that leads to blindness, characterised by tunnel vision and night blindness. The variability in presentation and severity of the syndrome together with the rarity of the condition. ما هي متلازمة بارديت بيدل Bardet Biedl Syndrome؟ تُعد متلازمة بارديت بيدل اضطرابًا يصيب أجزاء كثيرة من الجسم. تختلف علامات وأعراض هذه الحالة بين الأفراد المصابين، حتى بين أفراد العائلة نفسها Disease 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. Summary Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset

Bardet Biedl Syndrome - an overview ScienceDirect Topic

Bardet-Biedl syndrome (BBS) Symptoms and Cause

  1. 概述1920年由Bardet和Biedl首次报道。现已报道的病例有300多例。临床表现(一)主征:智力低下,色素性视网膜病(主要为视网膜营养障碍),肥胖,性腺发育不良,男性睾丸小、小阴茎,女性月经失调。肾脏结构、功能异常,高血压。多指(趾)、并指(趾)或短指(趾)
  2. Bardet-Biedl syndrome (BBS) is a debilitating and life threatening association of obesity, blindness and renal failure. BBS gives rise to several problems some of which are life threatening and therefore requires the input of many medical specialist and several non-clinical services. Affected families often feel isolated with fe
  3. * Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple body organs. Bardet-Biedl Syndrome with end stage renal disease The extra toe was surgically removed but the discovery led to a diagnosis two years later of a condition called Bardet-Biedl syndrome , which affects just one in 100,000 children

Bardet-Biedl syndrome 14 - Conditions - GTR - NCB

Bardet-Biedl syndrome (BBS) is a heterogeneous disease caused by abnormal cilia. Mutations in at least 18 genes result in different types of BBS. The most common symptoms of BBS are retinitis pigmentosa progressing to blindness, obesity, polydactyly, hypogonadism, and learning disabilities. BBS is usually inherited in an autosomal recessive manner Bardet-Biedl syndrome. Bardet-Biedl syndrome (BBS) is an inherited genetic condition that affects approximately 1 in 100,000 babies born. It is named after the four doctors who described the symptoms of the syndrome. Genes on chromosomes 16, 11, 3, 15, and 20 have been associated with BBS, but what these genes do and their roles in causing BBS. Bardet-Biedl syndrome is a ciliopathy with protean manifestations. Juvenile-onset pigmentary degeneration of the retina occurs in the vast majority of patients and is typically rod-cone, with atypica Bardet-Biedl Syndrome (BBS) In this condition RP is accompanied by abnormalities of the fingers and/or toes, obesity, kidney disease and sometimes developmental delay and learning difficulties. Bardet-Biedl syndrome (BBS) is a recessively inherited condition. More detailed information on Bardet-Biedl syndrome is available from

Bardet-Biedl syndrome : Imaging Findings Eurora

Background and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia. Please visit the Bardet-Biedl Syndrome UK website for more information. Jump to top. Genetics. BBS is a ciliopathy due to defective ciliogenesis and ciliary protein trafficking as a result of pathogenic mutations in one of the 21 causative genes Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple parts of the human body. Inhabitants of Canadian Newfoundland and those belonging to the Bedouin community of Kuwait seem to have a higher risk for developing the disorder

New criteria for improved diagnosis of Bardet-Biedl

In previous years, Laurence-Moon-Bardet-Biedl syndrome (LMBBS) was a term used to describe an inherited genetic condition that affected approximately 1 in 100,000 babies born. It was named after the four doctors who initially described the symptoms of the syndrome Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by obesity, mental impairment, rod-cone dystrophy, polydactyly, male hypogonadism, and renal abnormalities

• The Bardet-Biedl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth.. Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved.

What Is Bardet-Biedl Syndrome? (with pictures

Bardet-biedl Syndrome. Information about Bardet-biedl Syndrome: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us between the Bardet-Biedl syndrome and familial nephronophthisis with retinitis pigmentosa,I0 either congenital'' or of later onset,'* with no other features of the Bardet-Biedl syndrome, has yet to be elucidated, but in both conditions con- genital nerve deafness may occur. A further feature, hepatic fibrosis, in addition to renal an

Bardet-Biedl syndrome European Journal of Human Genetic

DISCUSSIONDISCUSSION Bardet - Biedl syndrome is a rare hereditaryBardet - Biedl syndrome is a rare hereditary recessive condition.recessive condition. Digenic / oligogenic inheritanceDigenic / oligogenic inheritance At least three mutations at two BBS loci areAt least three mutations at two BBS loci are required to manifest the disease. Bardet-Biedl syndrome is a genetically inherited condition. It results from mutations in at least 14 different genes in the body. These are commonly called BBS genes. It is found that these genes help make the hair like cellular structures called cilia. These cilia are involved in cell movement, different chemical signaling pathways perception.

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

OMIM Entry - # 209900 - BARDET-BIEDL SYNDROME 1; BBS

BARDET-BIEDL SYNDROME. Disorder characterized by loss of vision, obesity, the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. This syndrome can result from mutations in at least 14 different genes, which cause defects in the structure and function of cilia. What is Bardet Biedl Syndrome? There are 19 genes identified, which involve in Bardet Biedl Syndrome (BBS) development. But ailment in cilia is a most crucial element in developing BBS. The genetic malfunction is associated with cilia the primary component of cellular communication resulting Bardet Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive disorder with the primary clinical features of obesity, retinopathy, polydactyly, learning disabilities, and hypogenitalism (1, 2). BBS is also associated with an increased susceptibility to hypertension and cardiovascular disorders (1, 3, 4). Although BBS is rare in the general. Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder characterized by cardinal features including rod-cone dystrophy of the retina (sometimes called retinitis pigmentosa) 9, 10, 13. For the diagnosis, 4 primary or 3 primary and 2 secondary criteria are required Bardet-Biedl Syndrome is a genetically inherited condition. It is the result of inheriting mutations or alterations in the genes. At least 14 different genes have been identified that may be. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, hypogenitalism, and renal abnormalities. Patients with BBS are susceptible to hypertension, diabetes mellitus, olfaction deficits, and congenital cardiac defects Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi

Bardet-Biedl sendromu; Diğer adlar: Biedl-Bardet sendromu: Bu durum otozomal resesif yolla (digenik resesif dahil) kalıtsal olabilir. Uzmanlık: Medikal geneti There is no cure for Bardet-Biedl Syndrome today, but having a naturally occurring animal model for the condition could help us find one in the future, said the paper's corresponding author, Martha Neuringer, Ph.D., a professor of neuroscience at the Oregon National Primate Research Center at Oregon Health & Science University, and a research associate professor of ophthalmology in the. Background Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy that displays retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities as primary clinical features. To date, 19 causative genes (BBS1-19) have been involved, whose mutations would explain over 80% of patients.The overlapping phenotypes among ciliopathies. أعراض الإصابة بمتلازمة بارديت بيدل Bardet Biedl Syndrome. السمات الأساسية لمتلازمة بارديت بيدل هي السمنة الجذعية، الضعف الذهني، الشذوذ الكلوي، تعدد الأصابع، تنكس الشبكية ونقص التناسل Bardet-Biedl is a syndrome (set of related attributes) caused by a genetic mutation and characterized by the eye condition known as cone-rod dystrophy, in addition to a variety of features that may include abnormal weight gain in the trunk (and related health issues), extra fingers or toes (polydactyly), intellectual disability, developmental.

[PDF] Bardet-Biedl syndrome Semantic Schola

Katherine Eby is a stay-at-home mom to five children, ages 15 to 7 years. Two of her children live with the rare genetic condition Bardet-Biedl Syndrome. She writes to share her heart and their story with others. katherine-eby This page was last edited on 24 June 2018, at 07:28. Files are available under licenses specified on their description page. All structured data from the file and property namespaces is available under the Creative Commons CC0 License; all unstructured text is available under the Creative Commons Attribution-ShareAlike License; additional terms may apply The Bardet-Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive impairment, genito. Bardet-Biedl Syndrome NGS Panel | Fulgent Genetics. 4978 Santa Anita Ave, Temple City, CA 91780 | P: +1 (626)350-0537 | F: +1 (626)454-1667. Bardet-Biedl Syndrome NGS Panel Bardet-Biedl syndrome (BBS) clinically presents with retinal degeneration, limb abnormalities (polydactyly, brachydactyly), obesity (hyperphagia), developmental delay, reproductive anomalies and renal/ urinary tract abnormalities that may lead to renal failure as cardinal features. There is a broad spectrum of additional clinical symptoms.

Sotos syndrome

Bardet-Biedl Syndrome (BBS) is a n inherited disease belonging to the group of disorders called ciliopathies, where there is a defect in primary cilia which play s a key role in sensory perception and various signalling pathways. It is a pleiotropic genetic disorder where patients typically present with truncal obes ity, intellectual impairment as well as kidney, eye and genitalia anomalies Medical definition of Bardet-Biedl syndrome: a genetic disorder that is a ciliopathy characterized typically by obesity, retinal dysfunction and degeneration, learning disabilities, the presence of extra fingers or toes, abnormalities of the kidney, liver, and heart, short stature, and subnormal development of the genital organs

Bardet-biedl syndrome definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments In syndromic form, Usher syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet Biedl syndrome and Meckel syndromes are very common while in non-syndromic form RP is the most common cause of vision impairment worldwide (Hildebrandt and Zhou, 2007; Hildebrandt et al., 2011) and Pakistan (Adhi and Ahmed, 2002) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. Bardet-Biedl Syndrome with end stage renal disease The family has had support from charity Bardet-Biedl Syndrome UK which is due to receive a grant from Jeans for Genes to fund two booklets 1/27/16, 9:20 AM by Tamara en Bas Brinkman (30 augustus 2000, male) Views: 490. BARDET-BIEDL NETHERLANDS. Our oldest son has Bardet-Biedl Syndrome (BBS). We are setting up a family foundation in the Netherlands for BBS. Contact us: info@bardetbiedlsyndroom.nl Check our website: www.bardetbiedlsyndroom.nl

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