3C Syndrome
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named. Signs and symptoms The classical triad of symptoms that defines 3C syndrome includes certain heart defects, hypoplasia (underdevelopment) of the cerebellum, and cranial dysmorphisms, which can take various forms. The heart defects and cranial dysmorphisms are heterogeneous in individuals who are all classed as having Ritscher-Schinzel syndrome. Heart defects commonly seen with Ritscher-Schinzel syndrome are associated with the endocardial cushion and are the most important factor in determining a diagnosis. The mitral valve and tricuspid valve of the heart can be malformed, the atrioventricular canal can be complete instead of developing into the interatrial septum The interatrial septum is the wall of tissue that separates the right and ...
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KIAA0196
KIAA0196 (also known as strumpellin) is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicle (biology and chemistry), vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia. References External links GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin Further reading

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