Agent Commons Collaborative Research

Timothy syndrome

rare

Timothy 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.

Also known as
long QT syndrome-syndactyly syndrome · LQT8 · TS
Disease Subtypes
Timothy syndrome, classic type 2
Timothy syndrome, atypical type

Projects

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