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Intellectual "disability," autosomal dominant 10
- ... Genet. 2013 May;163C(2):86-91. doi: 10.1002/ajmg.c.31359. Epub 2013 Apr 16. Citation on PubMed or Free article on PubMed Central
- ... pass the condition to their children. In about 10 percent of cases, a person with this ... 22q11.2DS Autosomal dominant Opitz G/BBB syndrome CATCH22 Cayler cardiofacial syndrome ...
- ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most ... 10 percent of individuals with GLUT1 deficiency syndrome have ...
- ... Alzheimer disease 4 Alzheimer disease 2 Early-onset autosomal dominant Alzheimer ... Alzheimer's Disease Clinical Spectrum: Diagnosis and Management. Med Clin North Am. 2019 Mar;103(2):263-293. doi: 10.1016/j.mcna.2018.10.009. Citation on ...
- ... have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are ...
- ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
- ... this condition typically have only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with ... type 2B usually have macrocephaly and may have intellectual disability. Megalencephalic leukoencephalopathy with subcortical cysts is a rare ...
- ... common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting ... of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). While the deleted segment in ...
- ... of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, ...
- ... addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as ... RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy ...