BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2q31.1
BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615983.1.1 | Somalia | Unknown | Yes | No | Retinal dystrophy; Polydactyly; Obesit... Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney  | NM_152384.3:c.214G>A | Homozygous | Autosomal, Recessive | Hjortshoj et al. 2008 | Patient from Family ... |
| 615983.1.2 | Somalia | Unknown | Yes | No | Retinal dystrophy; Polydactyly; Obes... Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | NM_152384.3:c.214G>A | Homozygous | Autosomal, Recessive | Hjortshoj et al. 2008 | Sibling of 615983.1.... |
| 615983.1.3 | Somalia | Unknown | Yes | No | Retinal dystrophy; Polydactyly; Ob... Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | NM_152384.3:c.214G>A | Homozygous | Autosomal, Recessive | Hjortshoj et al. 2008 | Sibling of 615983.1.... |
| 615983.1.4 | Somalia | Unknown | Yes | No | Retinal dystrophy; Polydactyly; ... Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | NM_152384.3:c.214G>A | Homozygous | Autosomal, Recessive | Hjortshoj et al. 2008 | Sibling of 615983.1.... |
| 615983.2.1 | Saudi Arabia | Male | Yes | Yes | Abnormality of the kidney; Obesity; Sh... Abnormality of the kidney; Obesity; Short stature | NM_152384.3:c.425T>A | Homozygous | Autosomal, Recessive | Li et al. 2004 | Patient from Family ... |
| 615983.2.2 | Saudi Arabia | Male | Yes | Yes | Abnormality of the kidney; Obesity; ... Abnormality of the kidney; Obesity; Short stature | NM_152384.3:c.425T>A | Homozygous | Autosomal, Recessive | Li et al. 2004 | Brother of 615983.2.... |
| 615983.3 | United Arab Emirates | Male | No | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_152384.3:c.158C>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F030-A" in the ... |
| 615983.4 | Saudi Arabia | Unknown | No | Rod-cone dystrophy Rod-cone dystrophy | NM_152384.3:c.952GAA[1] | Homozygous | Autosomal, Recessive | Patel et al. 2016 | ||
| 615983.G.1 | Tunisia | Unknown | Yes | Retinal dystrophy; Abnormality of the k... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_152384.3:c.123del | Homozygous | Autosomal, Recessive | Smaoui et al. 2006 | 2 patients from fami... | |
| 615983.G.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Hydron... Obesity; Intellectual disability; Hydronephrosis; Polydactyly; Anosmia; Abnormal facial shape; Hepatic steatosis | NM_152384.3:c.966dup | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Four affected member... |
| 615983.G.3 | Saudi Arabia | Unknown | No | Retinal dystrophy Retinal dystrophy | NM_152384.3:c.966dup | Homozygous | Autosomal, Recessive | Patel et al. 2016 | Family with unknown ... |