BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
14q31.3
BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615985.1.1 | Arab | Male | Yes | Yes | Rod-cone dystrophy; Hand polydactyly; ... Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; Micropenis  | NM_198309.3:c.459G>A | Heterozygous, Homozygous | Autosomal, Recessive | Stoetzel et al. 2006 | North African. Proba... |
| 615985.1.2 | Arab | Female | Yes | Yes | Rod-cone dystrophy; Hand polydactyly; ... Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Hydrometrocolpos; Renal insufficiency | NM_198309.3:c.459G>A | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006 | Sister of patient 61... |
| 615985.1.3 | Arab | Female | Yes | Yes | Rod-cone dystrophy; Hand polydactyly; Fo... Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Renal dysplasia | NM_198309.3:c.459G>A | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006 | Sister of patient 61... |
| 615985.2.1 | Lebanon | Unknown | No | Yes | Bardet-Biedl Syndrome [not HPO term] Bardet-Biedl Syndrome [not HPO term] | NM_144596.3:c.624+1G>A | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Muller et al. 2010 | Single patient. No a... |
| 615985.G.1 | Tunisia | No | Yes | Retinal dystrophy; Abnormality of the k... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_144596.3:c.489+1G>A | Homozygous | Autosomal, Recessive | Smaoui et al. 2006 | One patient each fro... |