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Specific language impairment 2
- ... disorder is more complex and depends on the specific genetic change. Speech and language disorder with orofacial dyspraxia Speech-language disorder 1 Genetic ...
- ... have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12.Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most ...
- ... of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild ...
- ... active) only on the maternal copy. This parent-specific gene activation results from a phenomenon called genomic imprinting.The most common chromosome abnormality that leads to 15q11.2-q13.1 duplication, occurring in about 80 percent ...
- ... the epilepsy-aphasia spectrum. Epilepsia. 2013 Feb;54(2):280-7. doi: 10.1111/epi.12065. Epub 2013 Jan 7. Citation on PubMed Turner SJ, Morgan AT, Perez ER, Scheffer IE. New genes for focal epilepsies with speech and language disorders. Curr Neurol Neurosci Rep. 2015 Jun;15(6): ...
- ... from the egg cell is expressed. These parent-specific differences in gene ... can cause people to have two active copies of some imprinted genes and no ...
- ... factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity ( ... normal development and function, its relationship to the specific features of Koolen-de Vries syndrome is unclear. ...
- ... the loss of SETBP1 protein leads to the specific features of SETBP1 haploinsufficiency disorder. A shortage of ... EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 ...
- ... the loss (deletion) of genetic material from a specific region of chromosome 7. The deleted region includes ... Children With Williams Syndrome. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub ...