Nance-Horan syndrome- MedGen UID:
- 208665
- •Concept ID:
- C0796085
- •
- Disease or Syndrome
Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).
Cataract 10 multiple types- MedGen UID:
- 318817
- •Concept ID:
- C1833229
- •
- Disease or Syndrome
Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.
The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'
Craniolenticulosutural dysplasia- MedGen UID:
- 334671
- •Concept ID:
- C1843042
- •
- Disease or Syndrome
Craniolenticulosutural dysplasia is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).