| Phenotype details |
birth weight normal; normal height, OFC -1.33; developmental delay/intellectual disability, DQ 53; gross motor delay, fine motor delay, n/a; speech delay; autism, no attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; normal skin; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; myoclonus epilepsy under control with valproate, levetiracetam |