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Results 1 - 10 of 114 for robert syndrome related disorders
  1. KRAS gene 
    ... PubMed Quezada E, Gripp KW. Costello syndrome and related disorders. ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  2. Eosinophil count - absolute 
    ... P, Weller PF, Klion AD. Eosinophilia and eosinophil-related disorders. ... DJ. Hematologic aspects of parasitic diseases. In: Hoffman ...
    https://medlineplus.gov/ency/article/003649.htm - Medical Encyclopedia
  3. FOXP2-related speech and language disorder 
    FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals ...
    https://medlineplus.gov/...oxp2-related-speech-and-language-disorder - Genetics
  4. Progressive external ophthalmoplegia 
    ... PubMed Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: ... J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  5. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  6. Congenital generalized lipodystrophy 
    ... generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by ... multiple cysts on the ovaries, which may be related to hormonal changes. Many people with this disorder develop acanthosis nigricans, a skin condition related to ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  7. COL1A1 gene 
    ... hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005 May;115(5):1250- ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  8. Lewy Body Dementia From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Lewy body dementia (LBD) is a disease associated with abnormal deposits of a protein called alpha-synuclein in the brain. The deposits, called Lewy bodies, ...
    https://www.ninds.nih.gov/.../disorders/lewy-body-dementia - External Health Links
  9. PTPN11 gene 
    ... PubMed Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  10. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
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