Sjögren-Larsson syndrome- MedGen UID:
- 11443
- •Concept ID:
- C0037231
- •
- Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).
Retinitis pigmentosa 73- MedGen UID:
- 907690
- •Concept ID:
- C4225287
- •
- Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.