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).
Acrofacial dysostosis Cincinnati type- MedGen UID:
- 903483
- •Concept ID:
- C4225317
- •
- Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
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).
Multiple mitochondrial dysfunctions syndrome 7- MedGen UID:
- 1841222
- •Concept ID:
- C5830586
- •
- Disease or Syndrome
Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023).
For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).