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Trisomy 13

rare

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

Identifiers
MONDO:0018068 Orphanet:3378
Part of
Chromosome 13 disorderCongenital vitreoretinal dysplasiaSyndromic diseaseTrisomy
Also known as
chromosome 13, trisomy 13 complete · D trisomy syndrome (formerly) · Patau syndrome · Patau's syndrome · Trisomy 13 Syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Complete trisomy 13
Mosaic trisomy 13

Rare disease

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