Recombinant 8 syndrome

MONDO:0008365

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

Also known as: Duplication 8q/deletion 8p, Rec(8) syndrome, Rec8 syndrome, Recombinant chromosome 8 syndrome, San Luis Valley syndrome, RECOMBINANT chromosome 8 syndrome, San Luis Valley recombinant chromosome 8 syndrome, chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion

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↑ Hereditary disease (18235)

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