Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496189 | SCV000586741 | pathogenic | Syndromic X-linked intellectual disability 94 | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, severe; hypotonia |