310. Congenital anomalies syndrome Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 12 / Drugs : 21 - (DrugBank : 10) / Drug target genes : 2 - Drug target pathways : 3
| Other names | - | ||
|---|---|---|---|
| Disease group | Chromosomal and gene abnormalities | ||
|
Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese) |
41 patients Age distribution
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| Clinical research form (in Japanese) MHLW Intractable Diseases, FY2026 (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 | |||
| Sub-diseases (Clinical research forms may not be available for all sub-diseases.) | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 310-1. | Partial trisomy 1q syndrome;Chromosome 1q21.1 duplication syndrome;Trisomy 1q; | ||
| 310-2. | 9q34 deletion syndrome;Chromosome 9q34.3 deletion syndrome;Chromosome 9q deletion syndrome;9q subtelomeric deletion syndrome;9q- syndrome;9q34.3 deletion/microdeletion syndrome;Kleefstra 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 | |