| Phenotype details |
see paper; ..., age onset early childhood; moderate intellectual disability; Infantile hypotonia (son); recurrent otitis media requiring placement ventilation tubes (son); proband: bilateral optic nerve hypoplasia, myopia, astigmatism, strabismus (3y/9y-surgery), amblyopia left eye; delayed speech; attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, rigidity, anger outbursts; proband sees psychologist; 13y-onset seizures, focal onset frontal lobe hyper motor seizure; EEG (2008)-slowing in occipital region, EEG (2017)-slow background, no epileptiform discharges, EEG (2020)-normal, vEEG (2021)- 8 typical spells of arousing from sleep with altered behavior consistent with focal-onset frontal lobe seizure based on semiology, without clear consistent lateralized electroencephalographic seizure pattern discernible, recurrent frontotemporal epileptiform discharges in sleep with maximal negativity over the left or right anterior temporal region, recurrent - frequent frontal slow wave potentials in sleep; MRI brain partial agenesis and dysplasia of corpus callosum, hypoplastic optic nerves and chiasm; weight 25th - 50th centile; height 25th -50th centile; OFC 50th-98th centile; no dysmorphic feturres; severe constipation with encopresis, unexplained weight loss which resolved (BMI ~50% currently); elevated finger pads, fifth finger clinodactyly |
