| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; severe intellectual disability; developmental delay; motor delay, delayed fine motor skills; speech delay, only speaks single words; dysarthria; epilepsy, absences at young age, later epilepsy consisting of clonic seizures and complex partial seizures; EEG abnormal, epileptic activity frontal/central right: diffuse theta-delta activity or (poly)peakwaves; no hypotonia; no spasticity; autism spectrum disorder, specified as PDD-NOS; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; long palpebral fissure, full eyebrows, long nose with flat philtrum, posteriorly rotated, simple ears, full helices and lobes, widow's peak; remarkable developmental problem of teeth, enamel abnormalities of primary teeth, severe enamel abnormalities at time of teeth shedding, local loss of bone around primary teeth, hypereruptive teeth, loose teeth and loss of teeth/missing teeth; drooling as a child, no dysphagia; no hearing abnormalities; hypermetropia, astigmatism; no cardiac abnormalities; pedes planovalgi, otherwise normal; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; severe allergic reaction to carbamazepine, leading to vasculitis-like disease and admission at ICU, immunoglobulins not measured; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (114 U/L) |
