| Label | Id | |
|---|---|---|
| generalized epilepsy with febrile seizures plus, 7 | C567827 | |
| CACH VWM syndromes | D056784 | |
| periventricular, associated with chromosome 5q deletion heterotopia | C567876 | |
| CACH VWM syndrome | D056784 | |
| long qt syndrome 12 | C567842 | |
| autosomal recessive, type IIB cutis laxa | C567855 |