DHCR7
Deellabo: | PGD DNA |
Gen (Gen Code): | DHCR7 |
Aliases Gen: | SLOS; DHCR7 |
Gen ID (NCBI): | 1717 |
OMIM Gen ID: | 602858 |
Chromosomale locatie: | 11q13.4 |
Genetische aandoening / Analyse: | Smith-Lemli-Opitz syndroom (SLOS) |
OMIM aandoening ID: | 270400 |
Overerving: | AR |
Aliases aandoening: | SMITH-LEMLI-OPITZ SYNDROME; SLOS SLO SYNDROME RSH SYNDROME RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG LETHAL ACRODYSGENITAL SYNDROME |