Patau syndrome
758.1
http://purl.bioontology.org/ontology/MEDDRA/10034115
http://purl.bioontology.org/ontology/MESH/D000073839
http://purl.obolibrary.org/obo/DOID_11665
https://en.wikipedia.org/wiki/Patau_syndrome
https://www.wikidata.org/wiki/Q284219
A chromosome syndrome 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.
Bartholin Patau syndrome
Bartholin-Patau syndrome
Edwards syndrome and Patau syndrome
Patau syndrome, unspecified
Patau's syndrome
Pataus syndrome
complete trisomy 13 syndrome
mosaic trisomy 13 syndrome
trisomy 13 syndrome
autosomal chromosomal syndrome