Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496140 | SCV000586780 | pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, mild; postnatal microcephaly; 2-3 syndactyly; dysmorphism |