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. [ Orphanet:65283 ]
Synonyms: long QT syndrome-syndactyly syndrome Timothy syndrome TIMOTHY syndrome TS
Term information
- Orphanet:65283 (OMIM:601005)
- DOID:0060173 (MONDO:equivalentTo)
- GARD:9294 (MONDO:GARD)
- NORD:1772 (MONDO:NORD)
- UMLS:C1832916 (MONDO:equivalentTo)
- MEDGEN:331395 (MONDO:equivalentTo)
- MESH:C536962 (Orphanet:65283/e)
- OMIM:601005 (Orphanet:65283/e)
- NCIT:C142894 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://omim.org/entry/601005
http://purl.obolibrary.org/obo/DOID_0060173
http://purl.obolibrary.org/obo/NCIT_C142894
http://identifiers.org/medgen/331395
http://identifiers.org/mesh/C536962
http://www.orpha.net/ORDO/Orphanet_65283
http://linkedlifedata.com/resource/umls/id/C1832916
long QT syndrome with syndactyly
long QT syndrome 8
LQT8
long QT syndrome type 8
Term relations
- autosomal dominant disease
- familial long QT syndrome
- has material basis in germline mutation in some CACNA1C
- disease has feature some Ventricular fibrillation
- disease has feature some Syncope
- disease has feature some Tachycardia
- disease has feature some ventricular fibrillation
- disease has feature some heart conduction disease