Coffin-Lowrys syndrom
Ett sällsynt X-länkat INTELLEKTUELL FUNKTIONSHINDER syndrom som är resultatet av mutationer i genen RIBOSOMAL PROTEIN S6 KINASE. Typiska manifestationer av sjukdom inkluderar en intelligenskvotient på mindre än 50, ansiktsavvikelser, och andra missbildningar.
Förklaring på engelska
A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Synonym, svenska:
Synonym, engelska: Coffin Lowry Syndrome; Syndrome, Coffin-Lowry; Coffin Syndrome; Syndrome, Coffin; Mental Retardation with Osteocartilaginous Abnormalities
| Svensk term | Coffin-Lowrys syndrom |
| Synonym på svenska | |
| Synonym på engelska | Coffin Lowry Syndrome; Syndrome, Coffin-Lowry; Coffin Syndrome; Syndrome, Coffin; Mental Retardation with Osteocartilaginous Abnormalities |
| Engelsk term | Coffin-Lowry Syndrome |
| MESH ID | D038921 |