EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
نویسندگان
چکیده
منابع مشابه
Keypoints in Investigating the Child with Global Developmental Delay and Intellectual Disability
Objective. This paper highlights the main lines of etiological investigation of global developmental delay (GDD), mental retardation (MR) or intellectual disability (ID) and their specifi c order. GDD and MR/ID are chronic entities with onset during the developmental period, affecting personal, social, academic, occupational functions. Elucidating the etiology is important for establishing the ...
متن کاملOur experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.
INTRODUCTION Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD We review our experience with determining aetiological diagnoses...
متن کاملdiagnostic eva luation of the child with global developmental delay or intellectual disability
Current Opinion in Neurology 2008, 21:117–122 Purpose of review The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay Recent findings Several publications in the last three years evaluate the diagnos...
متن کاملcns structural anomalies in iranian children with global developmental delay
how to cite this article: zamani gh, shervin badv r, niksirat a, alizadeh h. cns structural anomalies in iranian children with global developmental delay. iran j child neurol. 2013 winter; 7 (1):25-28. objective central nervous system (cns) malformations are one of the most important causes of global developmental delay (gdd) in children. about one percent of infants with gdd have an inherite...
متن کاملDe novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2020
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13842