BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
20p12.2
BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 605231.1 | Tunisia | Unknown | Yes | Retinal dystrophy; Abnormality of the k... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology  | NM_018848.3:c.1436C>G, NM_018848.3:c.1549C>T, NM_018848.3:c.1595G>T | Homozygous | Autosomal, Recessive | Smaoui et al. 2006 | Patient from family ... | |
| 605231.2.1 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; Ventricular septal defect | NM_170784.3:c.871G>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F019-A" in the ... |
| 605231.2.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; Ventricular septal defect | NM_170784.3:c.871G>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 605231.2.... |
| 605231.3 | Saudi Arabia | Male | No | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly | NM_170784.3:c.116C>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F022-A" in the ... |
| 605231.4.1 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Ventricular septal defect | NM_170784.3:c.1646T>C | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | |
| 605231.4.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Atrial septal defect; Abnormality of the genital system | NM_170784.3:c.1646T>C | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 605231.4.... |
| 605231.4.3 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Abnormality of the genital system; Patent ductus arteriosus | NM_170784.3:c.1646T>C | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 605231.4.... |
| 605231.5.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Abnormality of the genital system | NM_170784.3:c.116C>T | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | |
| 605231.5.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Abnormality of the genital system | NM_170784.3:c.116C>T | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 605231.5.... |