Role of Mutations on NAGA Gene in Schindler Syndrome
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Schindler's syndrome type 2 is also known as Kanzaki disease, which is milder than type 1 syndrome and is most commonly seen in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss due to inner ear abnormalities (sensory hearing loss). They may experience feelings of weakness and inability due to neurological problems that connect the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Large clusters of blood vessels that form small, dark red spots on the skin (angiocratoma) are characteristic of this form of Schindler's syndrome. Schindler's syndrome is type 3, intermediate between type 1 (severe) and type 2 (mild). Affected individuals may show signs and symptoms at birth, including growth retardation, seizures, large and weak heart muscle (cardiomyopathy), and large liver (hepatomegaly). In other cases, people with this type of disorder in early childhood show behavioral problems with some of the characteristics of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and social skills.