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Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions.
About 10–15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome, [6] a category referred to as syndromic autism. Approximately 8 in 10 people with autism suffer from a mental health problem in their lifetime, in comparison to 1 in 4 of the general population that suffers ...
Athabaskan brainstem dysgenesis syndrome (ABDS) or Athabascan brainstem dysgenesis syndrome is an extremely rare genetic condition that affects the central nervous system's brainstem. It is characterized by a variety of varied traits, such as facial paresis, sensorineural deafness , congenital horizontal gaze palsy , central hypoventilation ...
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In the developing brain, neural stem cells must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation , is controlled by a complex assortment of chemical guides and signals.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Down syndrome is a genetic syndrome marked by intellectual disability and distinct cranio-facial features and occurs in approximately 1 in 800 live births. [17] Experts believe the genetic cause for the syndrome is a lack of genes in the 21st chromosome. [17] However, the gene or genes responsible for the cognitive phenotype have yet to be ...
In genetics, trinucleotide repeat disorders, a subset of microsatellite expansion diseases (also known as repeat expansion disorders), are a set of over 30 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental ...