Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02382 | Bainbridge-Ropers syndrome | ... syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech impairment, autistic ... | Congenital malformation | ASXL3 [HSA:80816] [KO:K11471] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |