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Results 1 - 10 of 25 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. GNAQ gene 
    ... iris) and related tissues that underlie the white part of the eye (the ... with Sturge-Weber syndrome or isolated port-wine birthmark do not have ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  3. 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
  4. 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
  5. WNT3 gene 
    The WNT3 gene is part of a large family of WNT genes, which play critical roles in development before birth. WNT genes provide instructions for ... other serious birth defects associated with tetra-amelia syndrome type 1. More About This Health ... C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U. Homozygous WNT3 mutation causes tetra- ...
    https://medlineplus.gov/genetics/gene/wnt3 - Genetics
  6. Chromosome 9 
    ... deletion. More About This Health Condition Deletions of part or all of chromosome 9 are commonly found ... this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with ...
    https://medlineplus.gov/genetics/chromosome/9 - Genetics
  7. CACNA1F gene 
    ... The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel ... acuity, nystagmus, an irregular curvature of the front part of the eye (astigmatism), myopia, abnormal color vision, ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  8. 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
  9. CDH1 gene 
    ... In many cases, this increased risk occurs as part of an inherited cancer disorder called hereditary diffuse ... a primary tumor and spread (metastasize) to other parts of the body. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/cdh1 - Genetics
  10. SLC25A19 gene 
    ... the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports ... on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as ...
    https://medlineplus.gov/genetics/gene/slc25a19 - Genetics
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