Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258629 | SCV000320782 | likely pathogenic | Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder | 2016-08-20 | criteria provided, single submitter | research |