| Phenotype details |
see paper; ..., imminent abortus; normal delivery; birth 39w; moderate intellectual disability; developmental delay; motor delay, sitting at 1y, walking at 2y, walking on tip toes; speech delay; dysarthria; 8m-epilepsy, fixed gaze, jerking face, tonal tension of hands, seizures gradually subsided, changed, and later became isolated nocturnal - generalized, several times a month, 7y-nocturnal generalized tonic-clonic seizures, only rarely occuring during daytime; EEG abnormal, focal epileptiformic activity; single discharges of spike-wave complexes in the L centro-frontal regions (F3-Fp1); infancy-hypotonia; 2y-spasticity, spastic diplegia; no ataxia; anxiety, chaotic and problematic behaviour; restless sleep; 0.9y-MRI brain external hydrocephalus in frontal areas; MRI (9y): arachnoid cyst in the area of right temporal pole, no hydrocephalus.; no regression; spastic diplegia, cerebral palsy, headaches; minor facial anomalies; discolored teeth, enamel hypoplasia; drooling during seizures; no hearing abnormalities; astigmatism; no cardiac abnormalities; short achilles tendons requiring surgery, gap between first and second toe, cubitus valgus; hypermobility joints; gastroesophageal reflux disease, chronic esophagitis; nocturnal enuresis; obesity; normal concentrations of immunoglobulins in serum; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (162.6 U/L) |
