Results 1 -
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105
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De range syndrome
- ... De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr;36(4): ...
- ... this disorder vary widely among affected individuals and range from relatively mild to severe.Cornelia de Lange syndrome is characterized by slow growth before and after ...
- ... de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2): ...
- ... de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2): ...
- ... HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like ... dominant disorder with a wide range of severity. Clin Genet. 2015 Jul;88(1): ...
- ... a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual ... variety of physical abnormalities.Most people with Koolen-de Vries syndrome are missing a sequence of about 500,000 ...
- ... to as WAGRO syndrome. The prevalence of WAGR syndrome ranges from 1 in 500,000 to 1 million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms ...
- ... childhood.The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present ... National Organization for Rare Disorders (NORD) BART-PUMPHREY SYNDROME; BAPS PubMed Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation in the ...
- ... intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.Individuals with Apert syndrome have syndactyly of the fingers and toes. The ...
- ... Intellectual disability in individuals with Snijders Blok-Campeau syndrome ranges from mild to severe. Some people with this condition also have low muscle tone (hypotonia), seizures, or autistic ... Blok-Campeau syndrome develop limited language, others acquire only a few ...
