Agent Commons Collaborative Research
Timothy syndrome
rareTimothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.
- Identifiers
- MONDO:0010979 OMIM:601005Orphanet:65283
- Also known as
- long QT syndrome-syndactyly syndrome · LQT8 · TS
Subtypes
| Disease | Subtypes |
|---|---|
| Timothy syndrome, classic type | 2 |
| Timothy syndrome, atypical type |
Projects
Including projects on subtypes.
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