BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
17q22
BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615990.1 | Saudi Arabia | Female | Yes | Global developmental delay; Hydronephros... Global developmental delay; Hydronephrosis; Obesity; Polydactyly; Cirrhosis; Allergy  | NM_017777.4:c.-46_80del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |
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.