Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258522 | SCV000320797 | pathogenic | Hypertelorism; Global developmental delay; Autistic behavior; Micrognathia; Short phalanx of finger; Growth delay; Low-set ears; 2-3 toe syndactyly; Absent speech; Single transverse palmar crease; Short toe; Somatic sensory dysfunction; Bilateral conductive hearing impairment; Attention deficit hyperactivity disorder | 2016-08-20 | criteria provided, single submitter | research |