Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
15q24.1
BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS. Anosmia has been described in patients with BBS4, as well as polydactyly confined to the hands. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615982.1.1 | Iraq | Female | Yes | Yes | Intellectual disability; Polydactyly; Ob... Intellectual disability; Polydactyly; Obesity; Hypogonadism  | NM_033028.5:c.157-3C>G | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 615982.1.2 | Iraq | Male | Yes | Yes | Intellectual disability; Polydactyly; Ob... Intellectual disability; Polydactyly; Obesity; Hypogonadism | NM_033028.5:c.157-3C>G | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Brother of 615982.1.... |
| 615982.1.3 | Iraq | Male | Yes | Yes | Intellectual disability; Polydactyly; Ob... Intellectual disability; Polydactyly; Obesity; Hypogonadism | NM_033028.5:c.157-3C>G | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Brother of 615982.1.... |
| 615982.2.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; Bicuspid aortic valve; External genital hypoplasia | NM_033028.4:c.157-2A>G | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F005-A" in the ... |
| 615982.2.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_033028.4:c.157-2A>G | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 615982.2.... |
| 615982.3 | Saudi Arabia | Male | No | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F013-A" in the ... |
| 615982.4 | Saudi Arabia | Male | No | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F017-A" in the ... |
| 615982.5.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-arRP-F026-A" in... |
| 615982.5.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 615982.5.... |
| 615982.5.3 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 615982.5.... |
| 615982.5.4 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_033028.4:c.157-2A>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 615982.5.... |
| 615982.6 | Saudi Arabia | Male | No | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia; Hearing impairment | NM_033028.5:c.1180C>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F031-A" in the ... |