310. Congenital anomalies syndrome Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 12 / Drugs : 16 - (DrugBank : 9) / Drug target genes : 3 - Drug target pathways : 8
| Other names | - | ||
|---|---|---|---|
| Disease group | Chromosomal and gene abnormalities | ||
|
Domestic patients
Med expenses recipients (FY2023) |
37 patients Age distribution
 💬 |
||
| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) 310-01, 310-02, 310-03, 310-04 | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 5-31-71. Other disorders of sex development of 46,XY | ||
| 13-1-15. Chromosomal abnormalities; Autosome | |||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 310-1. | Partial trisomy 1q syndrome;Trisomy 1q; | ||
| 310-2. | 9q34 deletion syndrome; | ||
| 310-3. | Cornelia de Lange syndrome;CdLS; | 13-1-7. Cornelia de Lange syndrome | |
| 310-4. | Smith-Lemli-Opitz syndrome;SLO syndrome; | 13-1-28. Smith-Lemli-Opitz syndrome | |