Recombinant chromosome 8 syndrome (Q56302)
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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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1847411826 |
||
| English | Recombinant chromosome 8 syndrome |
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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. |
Statements
CID11:ID_1847411826
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dki-india-ID_1847411826
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Concluído
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13 August 2026
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