| Phenotype details |
see paper; ..., normal pregnancy; birth at term; neonatal newborn jaundice (phototherapy); birth weight 3500g (P52, mean); length 149cm (<P1, -3 SD), weight 52.8kg (P22, -0.8 SD), OFC 54cm (P16, -1 SD); global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; no microcephaly; no autism; delayed motor skills, 2y-walk; 25y-no speech ("problem is tongue"), communicates skillfully with facial expressions and gestures, speech impairment potentially caused by perisylvian syndrome when taking MRI findings into consideration; 10y-seizure, focal lesional onset of epileptic seizures; EEG interictal biparietal focal epileptiform discharges; 23y-MRI brain lissencephaly spectrum/cobblestone malformation/polymicrogyria with anterior maximum (diffuse gliosis, heterotopia, simple ventricular structure In sum a disturbed neuronal migration and organization of cortex; normal coordination; normal muscle tone; ascending eyelid axis, narrow mouth with thin upper and lower lip vermillion, facial asymmetry (after nasal fracture), conical tapered fingers, upslanted palpebral fissures; normal cranial morphology; sialorrhea; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology |
