Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. Those with the condition have a constellation of issues, including intellectual disability, short stature, small heads, seizures and low muscle mass, said the researchers.
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.
“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study. “So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”AP analysis finds 2023 set record for US heat deaths, killing in areas that used to handle the heatResearchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins.
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