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Results 1 - 10 of 11 for parts Weber syndrome
  1. Sturge-Weber syndrome 
    ... appear enlarged and bulging (buphthalmos). Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. When these abnormal blood vessels ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  2. Klippel-Trenaunay syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov KLIPPEL-TRENAUNAY-WEBER SYNDROME PubMed Berry SA, Peterson C, Mize W, Bloom ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  3. Kleefstra syndrome 
    Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome ... Innes M, Davies C, Lopez AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo ... syndrome supports a major contribution of EHMT1 haploinsufficiency to ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  4. Tetra-amelia syndrome 
    ... syndrome can also cause severe malformations of other parts of the body, including the nervous system, face, ... of a family of WNT genes that are part of a process called Wnt signaling, which is ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  5. Congenital anomalies of kidney and urinary tract 
    ... other structures of the urinary tract. The additional parts of the urinary tract that may be affected ... to disrupt development of the kidneys or other parts of the urinary tract before birth, leading to ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  6. Snyder-Robinson syndrome 
    ... development and function of the brain and other parts of the body.Mutations in the SMS gene ... Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  7. Christianson syndrome 
    ... and has since been found people in other parts of the world. Christianson syndrome is caused by ... Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B. Christianson syndrome in a patient with an interstitial Xq26.3 ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  8. Genetic epilepsy with febrile seizures plus 
    ... epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most ... Balling R, Nurnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  9. Coffin-Siris syndrome 
    ... Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp ... Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmuller J, Li Y, ... Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102( ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  10. LMNA-related congenital muscular dystrophy 
    ... muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital ... Heinimann K, Rutz E, Schneider J, Frank S, Weber P, Fischer D. Congenital muscular ... with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
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