Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental conditions such as autism spectrum disorder, ...

Schinzel–Giedion syndrome (SGS), caused by missense variants in the degron region, leading to toxic gain-of-function. SETBP1 haploinsufficiency, typically caused by truncating mutations or deletions.

A group of 20 patients with undiagnosed neurodevelopmental disorders ranging from severe to mild has now received a genetic diagnosis thanks to an international team of researchers at the GREGoR ...

For babies born with alternative hemiplegia of childhood (AHC), an extremely rare and severe neurodevelopmental disorder, there may be no obvious symptoms for several months. Then the attacks begin: ...

Exposure to SARS-CoV-2 infection during pregnancy was associated with a 29% greater risk of neurodevelopmental diagnosis by age 3 years. The largest effects were observed in third-trimester exposures, ...