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Results 1 - 10 of 179 for De range syndrome
  1. SMC3 gene 
    ... De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr;36(4): ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  2. Cornelia de Lange syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  3. FOXL2 gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
  4. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... 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): ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  5. Usher Syndrome From the National Institutes of Health (National Institute on Deafness and Other Communication Disorders)  
    Usher Syndrome/Learn More ... Usher Syndrome ... National Institute on Deafness and Other Communication Disorders ... From the National Institutes of Health ... Usher syndrome ...
    https://www.nidcd.nih.gov/health/usher-syndrome - External Health Links
  6. HDAC8 gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  7. Tourette syndrome 
    ... fast, repeated movement or sound. Symptoms of Tourette syndrome can range from tiny, minor movements (such as grunts, sniffling, ...
    https://medlineplus.gov/ency/article/000733.htm - Medical Encyclopedia
  8. Chromosome 17 
    ... 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 ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  9. WAGR syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  10. Bart-Pumphrey syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
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