| Phenotype details |
last assessment middle childhood; height -0.56 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; delayed speech; febrile seizures; hypotonia diagnosed during infancy; stereotypic movement disorder involving entire body during early childhood; bilateral strabismus, intermittent esotropia; normal except for 2 frequencies in right ear and 1 frequency in left ear (deemed unlikely to affect speech), difficult to delienate from sequelae of infectious etiology; distinct features; no GI dysmotility/feeding problems; no autism spectrum disorder, self-stimulatory behavior (rocking, hand flapping and other repetitive hand movements, lining up toys/objects), self-injurious behavior (head banging, hitting, and biting) and history of aggression (resolved); no failure to thrive; no sleeping difficulties; bilateral pronation deformitiy of the feet, enamel hypoplasia, pectus excavatum; episodes of vasomotor symptoms in the hands, flushing, now painful episodes of palor and cool temperature concerning for hypoperfusion of hands, otherwise not consistent with raynaulds; MRI brain normal; 24h EEG in early childhood was normal; Small patent foramen ovale with left to right atrial shunting (incidence 25% in Normal population), incomplete right bundle branch block, benign pulmonary outflow tract murmur |
