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large syndrome
- ... This Health Condition Most people with Kearns-Sayre syndrome have a single, large deletion of mitochondrial DNA. The deletions range from ... for making proteins that are part of the large enzyme complexes necessary ... gene in Leigh syndrome, MT-ATP6, provides instructions for a protein that ...
- ... each cell. Major features of 19p13.13 deletion syndrome include an unusually large head size (macrocephaly), tall stature, delayed development of ...
- ... a position designated 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. More About This Health Condition ...
- ... condition.The signs and symptoms of SATB2-associated syndrome are usually similar, regardless of the type of mutation that causes it. However, some individuals with large deletions have uncommon features of the condition, such ...
- ... symptoms comprising a condition called 22q11.2 deletion syndrome (described above).22q11 microdeletions are among many factors under study to help explain the causes of schizophrenia. A large number of genetic and environmental factors, most of ...
- ... normally hypermethylated, which means that it has a large number of methyl groups (molecules that consist of ... change. More About This Health Condition Wolf-Hirschhorn syndrome is caused by a deletion of genetic material ...
- ... is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. ...
- ... condition often have short stature, a round face, large ears, a shortened space between the nose and ...
