Phenotype details |
last assessment early childhood; height -0.1 SD, OFC -0.7 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); intellectual disability; developmental delay; speech not yet achieved, no words, only babbling; intractable atonic and tonic seizures; hypotonia; normal joints; normal movement; strabismus; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, hyperactive, autistic features (no formal diagnosis); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain cortical dysplasia of left temporal lobe; Generalized epileptiform discharges in ictal and inter ictal EEG; |