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The Clinic for Special Children (CSC) is a primary pediatric and adult care and genetic research clinic located in Gordonville, Pennsylvania. The facility specializes in genetic problems of the plain sects, such as the Amish and Old Order Mennonites. [1] It was founded in 1989.
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome [4] or GM3 deficiency syndrome, [5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. [2] The different characteristic features have been linked to the loss of specific genes. [2] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing. [1]
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome .
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4] Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated ...
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.