| Phenotype details |
normal pregnancy, birth, birth weight 3.500kg (p50); weight p40, height p84, OFC p45; motor development first words 1 yr, stopped speaking after a while. almost absent speech. likes to communicate with others with sign language. 12 years: 15 words; speech furst words 12m; mild-moderate intelletual disability; 9y-total IQ55; is developping aggresive behaviour. impulsivity, anxieties, hyperactivity, social normal behavior; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; 3y-seizures, medication Depakine, 5y-no seizures and medication anymore; EEG during sleep a lot of epileptiformal activity at right centroparietal lobe, without ictal signs; normal cerebral MRI; congenital shawl-scrotum, 5y-circumcision; broad nasal bridge, pointed chin. frontal bossing, hairline anomalies. thin upper lip, flat and long philtrum, folded helices, upturned ear lobules, low-set ears, posteriorly rotated ears, downslant palbebral fissures, hypertelorism, long eyelashes, ptosis, synophrys; small chest. short, broad halluxes, short 4th and 5th toes. left clinodactyly 2nd toe. naevus flammeus right lower arm (acquiered portwine stain). 2 cafe au lait spots at back; 14y-hypermetropia (+9 dpt) both eyes; 9y-sleeping problems,14y-no sleeping problems; craving to food |
