Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258782 | SCV000320958 | pathogenic | Hypernasal speech; Abnormal pinna morphology; Macrocephaly; Underdeveloped nasal alae; Psychotic episodes; Large for gestational age; Sparse hair; Moderate global developmental delay; Abnormal circulating serine concentration; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |