Glossary
Searchable terminology from accessibility, web standards, and related fields.
2 results found in Rare Diseases.
- Partial Trisomy 9p (9p Duplication Syndrome, Rethore Syndrome)
- A rare chromosomal condition in which a portion of the short arm of chromosome 9 is present in triplicate rather than in duplicate. The condition is associated with intellectual disability, distinctiv…
- Rett Syndrome (RTT)
- A rare, X-linked neurodevelopmental disorder caused in most cases by mutations in the MECP2 gene, affecting almost exclusively females. After typical early development, children with Rett syndrome los…