Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agency for Science, |
RCV000203285 | SCV000172205 | pathogenic | Hypertelorism; Isolated Pierre-Robin syndrome; Scoliosis; Hirsutism; Bulbous nose; Flat occiput; Wide nasal bridge; Strabismus; Intellectual disability, mild; Metatarsus adductus; Equinovarus deformity; Camptodactyly; Developmental delay; Smooth philtrum | criteria provided, single submitter | research | Patients carrying mutations, copy number loss or gain, or balanced rearrangements within this gene displayed overlapping clinical phenotypes. |