Bardet-Biedl Syndrome 13

Alternative Names

  • BBS13

Associated Genes

MKS1 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615990

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q22

Description

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615990.1Saudi ArabiaFemaleYes Global developmental delay; Hydronephros...NM_017777.4:c.-46_80delHomozygousAutosomal, RecessiveMaddirevula et al. 2018

Other Reports

Saudi Arabia

Abu-Safieh et al. 2012 described a patient from Saudi Arabia (BBS-F032-A in the publication) with exon 1 loss of the MKS1 gene. The patient exhibited obesity, renal disease, polydactyly, anosmia, atopy, typical facies, congenital heart disease and liver disease. 

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