Timothy syndrome
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019171
familial long QT syndrome
is_a
MONDO:0700321
CACNA1C-related disorder
is_a
LQT8
related
TIMOTHY syndrome
exact
TS
exact
Timothy syndrome
exact
long QT syndrome-syndactyly syndrome
exact