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Mesh term Trisomy 13 Syndrome

Browse to parent terms:
Abnormalities, Multiple
Chromosome Disorders
Heart Defects, Congenital
Intellectual Disability

Description

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.



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View this term at the NCBI website
jenkins-FCD Prod-388 89e904233d719332173309c68ab82b0b2a78a3a7