Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
نویسندگان
چکیده
منابع مشابه
approach to mental retardation and global developmental delay
objective mental retardation (mr) or intellectual disability is one of three chronic and disabling neurological disorders of children and adolescents. its prevalence is estimated 1-3% of the population. mr is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. mr may come into view before 5 years as delay in at least two...
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 کاملInvestigation of global developmental delay.
The investigation of global developmental delay in preschool children varies between centres and between paediatricians. Following a literature search and review of the evidence base, guidelines were developed to assist in the assessment and management of such children presenting to secondary level services. Evidence supporting the use of genetic and biochemical investigations on a screening ba...
متن کاملThe developmental delay in children 4 to 24 months referred to health centers
Child growth is a dynamic process and has different stages including the development of gross motor, fine motor, communication, and personal-social abilities. Developmental disorders as one of the most common problems in the process child growth This study aimed to determine the developmental level of infants under two years who were admitted to the health care centres' of Kurdistan University ...
متن کامل4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients
Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2020
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2020.11.001