- ... Search term GeneReviews Advanced Search Help < Prev Next > Bardet-Biedl Syndrome Overview RaeLynn Forsyth , MD and Meral Gunay-Aygun , ... with Bardet-Biedl syndrome. 1. Clinical Characteristics of Bardet-Biedl Syndrome Bardet-Biedl syndrome (BBS) is a multisystem non- ...
- ... Scott et al. 2017 ]. Genetically Related (Allelic) Disorders Bardet-Biedl syndrome (BBS). A substantial and prognostically significant clinical overlap ... affected individuals [ Goyal et al 2020 ]. Differential Diagnosis Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily ...
- ... deficiency (inherited conditions that cause severe obesity) or Bardet-Biedl syndrome (BBS; an inherited condition that can cause severe ... benefit from using this medication. If you have Bardet-Biedl syndrome and you do not lose a certain amount ...
- ... published></health-condition-summary><health-condition-summary ><name >Bardet-Biedl syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... JS, suggesting an association with the ciliary disorder Bardet-Biedl syndrome ; the identification of biallelic pathogenic variants in INPP5E ... syndrome; NPHP = nephronophthisis; LCA = Leber congenital amaurosis; BBS = ... MORM = mental retardation, truncal obesity, retinal dystrophy, micropenis [ ...
- ... can be indicative of a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who ... see Table 2 in Joubert Syndrome, Clinical Characteristics ). Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy primarily characterized by ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome</url><title >Bardet-Biedl syndrome</title><other_names >< ...
- ... analysis) identifies alterations in about 90% of individuals. Bardet-Biedl syndrome (BBS) is characterized by cone-rod retinal dystrophy, ... renal dysfunction. The visual prognosis for children with Bardet-Biedl syndrome is poor: night blindness is usually evident by ...
- ... 25 BBS-related genes incl: BBS10 CEP290 14 Bardet-Biedl syndrome AR Primary criteria: retinal degeneration (cone-rod dystrophy), ... recessive; ARPKD = autosomal recessive polycystic kidney disease; BBS = Bardet-Biedl syndrome; CHF = congenital hepatic fibrosis; CKD = chronic kidney disease; ...
- ... and are often syndromic; examples include Alström syndrome , Bardet-Biedl syndrome , the neuronal ceroid lipofuscinoses, and Joubert syndrome and ... PJ, Trzupek KM, Beattie C. GeneReviews(®). 1993 Review Bardet-Biedl Syndrome Overview. [GeneReviews(®). 1993] Review Bardet-Biedl Syndrome Overview. ...
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