ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Timothy syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CACNA1C	(0.63)	VCP

Citations in the biomedical literature:

Timothy syndrome		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - LQT8 - Long QT syndrome - syndactyly - Long QT syndrome type 8		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536962		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.