BBS12 is a ciliopathy characterised by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, and renal anomalies.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
4q27
BBS12 is a ciliopathy characterised by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, and renal anomalies.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615989.1 | Lebanon | Female | No | No | Reduced visual acuity; Rod-cone dystr... Reduced visual acuity; Rod-cone dystrophy; Truncal obesity; Delayed speech and language development; Astigmatism; Clinodactyly  | NM_152618.3:c.880T>G, NM_001178007.1:c.265_266del | Heterozygous | Autosomal, Recessive | Jaffal et al, 2019b | |
| 615989.2.1 | United Arab Emirates | Female | Yes | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Hydrometrocolpos | NM_152618.3:c.959T>A | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F027-A" in the ... |
| 615989.2.2 | United Arab Emirates | Female | Yes | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Hydrometrocolpos | NM_152618.3:c.959T>A | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 615989.2.... |
| 615989.3 | United Arab Emirates | Female | No | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly | NM_152618.3:c.1993GTT[1] | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F028-A" in the ... |
| 615989.4.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Chroni... Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Abnormality of the genital system | NM_152618.3:c.2041_2049del | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | |
| 615989.4.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Chroni... Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Abnormality of the genital system | NM_152618.3:c.2041_2049del | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 615989.4.... |
| 615989.G.1 | Saudi Arabia | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape | NM_152618.3:c.787dup | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Four affected member... |