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Syndrome

Trisomy 13 Syndrome

AMW:DIS:100496

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.

Pathology clinical
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Trisomy 13 Syndrome has parent Abnormalities, Multiple
Trisomy 13 Syndrome has parent Chromosome Disorders
Trisomy 13 Syndrome has parent Heart Defects, Congenital
Trisomy 13 Syndrome has parent Intellectual Disability

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