| Phenotype details |
see paper; ..., gestational diabetes; birth 38w; language/speech delay, 19m-first words, communicates with vocalizations, very particular jargon made of bisyllabic words, often not understandable, but with rich and very particular verbal production; 4-5y-language understandable ; 7-8y-sentences, good aspects concerning understanding, attended school with the support teacher; motor delay, 25m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; <1y-sleep disturbances; 5y6m onset seizures, long lasting complex partial seizures with hospitalization in intensive care unit, partial seizures during sleep, focal epilepsy with opercular seizures; current therapy Ethosuximide, Clobazam; hypotonia; MRI brain normal; no joint hypermobility; no syndactyly; scoliosis, dorsolumbar; very slight widening distal phalanx of the 1st finger, slightly broad and valgus first toe; no pectus excavatum; high forehead. slightly straight eyebrows slightly prominent nasal bridge prominent cheeks. fleshy lips, wide mouth, often open, with slightly subverted lips. diastasis of the incisors.; no lip/cleft palate; no strabismus; fundus oculi peripheral depigmentation strips; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities |
