- ... variant, has WS3 [ Wollnik et al 2003 ]. Differential Diagnosis Waardenburg syndrome type I (WS1) needs to be differentiated from ... Table 5. Genes of Interest in the Differential Diagnosis of Waardenburg Syndrome Type I View in own window Gene(s) ...
- ... disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes ...
- ... seen in OCA may not be present. See Waardenburg Syndrome Type I . 3. Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular ...
- Read about skin pigmentation disorders, which affect the color of your skin. It could be too light or too dark, in certain areas or all over the body.
- ... variants or microdeletions in SOX10 can also cause Waardenburg syndrome, without IGD. ... Causes of Hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism refers ...
- ... Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are less common. The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from ...
- ... deletions that include MITF , the gene associated with Waardenburg syndrome type IIA (OMIM ... Diagnosis Because the phenotypic features associated with FOXP1 syndrome ...
- ... P, Lasseaux E, Arveiler B, Trimouille A. Triple diagnosis of Wiedemann-Steiner, Waardenburg ... a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am ...
- ... be bilateral & sudden Bilateral vestibular schwannomas w/assoc symptoms of tinnitus, HL, ... Table 6b. Select Common Causes of Autosomal Recessive ...
- ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
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