BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
16q13
BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615981.1.1 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Increased body mas... Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment  | NM_031885.4:c.416G>T | Homozygous | Autosomal, Recessive | Laurier et al, 2006; Muller et al. 2010 | She belongs to the s... |
| 615981.1.2 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Increased body mas... Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment | NM_031885.4:c.416G>T | Homozygous | Autosomal, Recessive | Laurier et al, 2006; Muller et al. 2010 | Sister of 615981.1.1 |
| 615981.2 | Tunisia | Unknown | No | Yes | Retinal dystrophy; Abnormality of the k... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_031885.4:c.565C>T | Homozygous | Autosomal, Recessive | Smaoui et al. 2006 | Patient from family ... |
| 615981.3 | Tunisia | Unknown | No | Yes | Retinal dystrophy; Abnormality of the ... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_031885.4:c.565C>T | Homozygous | Autosomal, Recessive | Smaoui et al. 2006 | Patient from family ... |
| 615981.4 | United Arab Emirates | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly Obesity; Rod-cone dystrophy; Polydactyly | NM_031885.5:c.1015C>T | Homozygous | Autosomal, Recessive | Khan. 2020 | |
| 615981.5 | Saudi Arabia | Male | No | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia | NM_031885.5:c.1207C>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F024-A" in the ... |
| 615981.6 | Saudi Arabia | Unknown | No | Retinal dystrophy Retinal dystrophy | NM_031885.5:c.508G>A | Homozygous | Autosomal, Recessive | Patel et al. 2016 | ||
| 615981.7 | Saudi Arabia | Unknown | No | Retinal dystrophy Retinal dystrophy | NM_031885.5:c.700C>T | Homozygous | Autosomal, Recessive | Patel et al. 2016 |