Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Istituto Neurologico Mediterraneo, |
RCV000791242 | SCV000929752 | pathogenic | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2019-05-23 | no assertion criteria provided | clinical testing | Hypomyelinating leukodystrophy type 7. Late age of onset. |