Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and autism spectrum disorders. Timothy syndrome represents one clinical manifestation of a range of disorders associated with mutations in CACNA1C,[1] the gene encoding the calcium channel Cav1.2 α subunit.
^Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (Feb 11, 2021) [1993]. "CACNA1C-Related Disorders". In Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Laura J.H.; Gripp, Karen W.; Amemiya, Anne (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301577.
Timothysyndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including...
arrhythmias. Many children with Timothysyndrome who survive longer than this have features of autism spectrum disorder. Timothysyndrome is caused by variants...
Stendhal syndrome, Stendhal's syndrome or Florence syndrome is a psychosomatic condition involving rapid heartbeat, fainting, confusion, and even hallucinations...
syndrome Miller syndrome Pfeiffer syndrome Smith–Lemli–Opitz syndromeTimothysyndrome Ectodermal dysplasia Klippel–Feil syndrome This condition is normally...
syndrome Rett syndrome Smith–Lemli–Opitz syndrome Timothysyndrome Tuberous sclerosis complex Williams syndrome Related issues Autism rights movement Critical...
years old. This is only the case for 5–8% of preschool children. Savant syndrome Nonverbal autism Language delay § Consequences of language delay Camarata...
cardiac channelopathies make up a key group of heart diseases. Long QT syndrome, the most common form of cardiac channelopathy, is characterized by prolonged...
the complex pathophysiology of developmental disorders. For example, Timothysyndrome, which affects L-type calcium channels, was modeled in neural assembloid...
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes...
Timothysyndrome, which causes severe cardiac arrhythmia (long-QT) along with syndactyly and similar craniofacial defects to Andersen-Tawil syndrome including...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...
2008-11-06. Timothy C. Hain. "Cogan's Syndrome". Archived from the original on May 17, 2008. Retrieved 2008-11-06. Timothy C. Hain. "Cogan's syndrome". Retrieved...
the Allen Institute for Brain Science. His papers on TimothySyndrome and Phelan McDermid Syndrome identified neuronal defects in induced pluripotent stem...
disease type 1A. - For cardiovascular disease, Timothysyndrome, LEOPARD syndrome, type 1 and 2 long QT syndrome - Alzheimer’s, Spinocerebellar ataxia, Huntington’s...
Epidermal nevus syndrome, also known as Feuerstein and Mims syndrome, and Solomon's syndrome: 775 is a rare disease that was first described in 1968 and...
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of...
Neotenic complex syndrome (NCS) is a syndrome that presents as an extreme form of developmental delay, with the defining characteristic being neoteny of...
Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to...
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