BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
7p14.3
BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615986.1.1 | Lebanon | Female | No | Yes | Reduced visual acuity; Rod-cone dystrop... Reduced visual acuity; Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Hepatic fibrosis; Postural instability  | NM_198428.3:c.2258A>T | Homozygous | Autosomal, Recessive | Jaffal et al, 2019b | |
| 615986.2.1 | Saudi Arabia | Female | Yes | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F015-A" in the ... |
| 615986.2.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Abnorm... Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly | NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 615986.2.... |
| 615986.2.3 | Saudi Arabia | Female | Yes | Yes | Rod-cone dystrophy Rod-cone dystrophy | NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | Sibling of 615986.2.... |
| 615986.G.1 | Saudi Arabia | Unknown | No | Retinal dystrophy Retinal dystrophy | NM_198428.3:c.263C>A | Homozygous | Autosomal, Recessive | Patel et al. 2016 | Family with unknown ... |