Bardet-Biedl Syndrome 12

Alternative Names

  • BBS12

Associated Genes

BBS12 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615989

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q27

Description

BBS12 is a ciliopathy characterised by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, and renal anomalies.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615989.1LebanonFemaleNoNo Reduced visual acuity; Rod-cone dystr...NM_152618.3:c.880T>G, NM_001178007.1:c.265_266delHeterozygousAutosomal, RecessiveJaffal et al, 2019b
615989.2.1United Arab EmiratesFemaleYesYes Obesity; Abnormality of the kidney; Rod-...NM_152618.3:c.959T>AHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F027-A" in the ...
615989.2.2United Arab EmiratesFemaleYesYes Obesity; Abnormality of the kidney; Rod-...NM_152618.3:c.959T>AHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 Sibling of 615989.2....
615989.3United Arab EmiratesFemaleNoYes Obesity; Abnormality of the kidney; Rod-...NM_152618.3:c.1993GTT[1]Heterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F028-A" in the ...
615989.4.1Saudi ArabiaMaleYesYes Obesity; Intellectual disability; Chroni...NM_152618.3:c.2041_2049delHomozygousAutosomal, RecessiveAldahmesh et al. 2014
615989.4.2Saudi ArabiaMaleYesYes Obesity; Intellectual disability; Chroni...NM_152618.3:c.2041_2049delHomozygousAutosomal, RecessiveAldahmesh et al. 2014 Sibling of 615989.4....
615989.G.1Saudi ArabiaYesYes Obesity; Intellectual disability; Sector...NM_152618.3:c.787dupHomozygousAutosomal, RecessiveAldahmesh et al. 2014 Four affected member...
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