Also known as long QT syndrome 8, LQT8, Long QT syndrome-syndactyly syndrome, TIMOTHY SYNDROME; TS, TIMOTHY SYNDROME, TS, Long QT syndrome type 8, Long Qt Syndrome With Syndactyly
via PubMed
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).