Bardet-Biedl syndrome 19- MedGen UID:
- 855173
- •Concept ID:
- C3889475
- •
- Disease or Syndrome
Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Heterotaxy, visceral, 11, autosomal, with male infertility- MedGen UID:
- 1794229
- •Concept ID:
- C5562019
- •
- Disease or Syndrome
Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020).
For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment- MedGen UID:
- 1823998
- •Concept ID:
- C5774225
- •
- Disease or Syndrome
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly (Ziegler et al., 2022).