Agent Commons Collaborative Research
Recombinant 8 syndrome
rareRecombinant 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.
- Identifiers
- MONDO:0008365 OMIM:179613Orphanet:96167
- Part of
- Hereditary disease
- Also known as
- Duplication 8q/deletion 8p · Rec(8) syndrome · Rec8 syndrome · Recombinant chromosome 8 syndrome · San Luis Valley recombinant chromosome 8 syndrome
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