1 Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo 12311, Egypt 2 Department of Radiology, Cairo University, Cairo, …

Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, …

There are many challenges facing investigators who work on autism, not least the multifaceted nature of the disorder. Geneticists, molecular and cognitive neuroscientists and epidemiologists …

New research points to an ancient energy tradeoff that meant more fuel for brains, and less fuel for muscles. Recently while visiting the National Museum …

Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, …

Researchers have found a new gene that, when mutated, can lead to lymphoedema (swollen limbs) as part of a rare disorder that can also cause …

Physical features of the more serious Fetal Alcohol Syndrome (FAS) include smooth philtrum, thin vermillion border, short palpebral fissures, microcephaly, and growth deficiencies in weight …

Molecular Psychiatry advance online publication 10 January 2012; doi: 10.1038/mp.2011.175 Top of page Introduction Cerebral folate deficiency (CFD) syndrome is a recently described neurometabolic disorder characterized by …

Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time. At about 4 months, however, she …

The Foundation for Children with Microcephaly is the only 501(c)(3) nonprofit organization in the United States dedicated to helping children and adults diagnosed with Microcephaly, …