Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism, [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
4q27
Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism, [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615984.1 | United Arab Emirates | Male | No | Yes | Seizure Seizure  | NM_176824.3:c.124G>A | Homozygous | Autosomal, Recessive | Mahfouz et al. 2020 | |
| 615984.2.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F012-A" in the ... |
| 615984.2.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 615984.2.... |
| 615984.2.3 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 615984.2.... |
| 615984.3.1 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Chroni... Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | |
| 615984.3.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 615984.3.... |
| 615984.4 | Saudi Arabia | Unknown | No | Rod-cone dystrophy Rod-cone dystrophy | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Patel et al. 2016 | ||
| 615984.G.1 | Saudi Arabia | Unknown | Yes | Retinal dystrophy Retinal dystrophy | NM_176824.3:c.602-2A>T | Homozygous | Autosomal, Recessive | Patel et al. 2016 | Family with unknown ... |