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Multifocal epileptiform discharges. Clinical examination at the age of 35 months revealed facial dysmorphism with a broad forehead, slight bitemporal narrowing, epicanthal folds, broad nasal bridge, rounded nasal tip, marked philtrum, full lips and slight uplift of the ear lobules. Results of cMRI, abdominal ultrasound and ophthalmological exam were normal. Cardiac and abdominal ultrasounds revealed normal results. Echocardiogram revealed a small PFO with left-to-right shunt. Heterozygous variants in MED13L have been described in a small number of patients presenting with dysmorphic features, developmental delay and complex cardiac defects.

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In addition, breathing problems consequent to irregularities in the internal structures of the nose can be addressed thereby improving the nasal airway. The human mediator complex. The original Lujan syndrome family has a novel missense mutation p. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. AspGly Exon 16 De novo M Feeding problems, epilepsy, IQ 50, Small dysplastic low set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand 22 g.

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The fashion industry and media define beauty but recently, several impressive groups of young women have mobilized to demand magazines discontinue Photoshopping images of females they feature. Index patient 4 was born at 35 weeks of gestation, by cesarean section due to preeclampsia, as the only child of non-consanguineous parents of Portuguese descent DECIPHER no. AspGly Exon 16 De novo M Feeding problems, epilepsy, IQ 50, Small dysplastic low set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand 22 g. Corpus callosum malformation, cavum vergae and arachnoid cyst.

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Description: National Center for Biotechnology Information , U. She suffered from recurrent upper airway infections and one episode of pyelonephritis. Anthropometric values were normal 50 centile for height, weight and OFC. Please visit our Facebook and Twitter pages and stay connected to pictures, presentations, events and more information. Indeed, the extent to which the cardiac phenotype is a feature of the MED13L syndrome is unclear. Further common clinical features are delayed speech and language development typically with near-totally absent speech, motor developmental delay with muscular hypotonia as well as coordination problems often with ataxia , and behavioral difficulties.
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