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Results 1 - 2 of 2 for Urofacial syndrome 2
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  1. HPSE2 gene 
    ... identified in people with Ochoa syndrome (also called urofacial syndrome), a disorder that causes urinary problems and unusual facial expressions. These mutations result in changes in the heparanase 2 protein that likely prevent it from functioning. The ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  2. Ochoa syndrome 
    ... with urinary abnormalities UFS Urofacial Ochoa's syndrome Urofacial syndrome Genetic Testing Registry: Ochoa syndrome Ochoa syndrome National Organization for Rare Disorders (NORD) UROFACIAL SYNDROME 1; UFS1 PubMed Al Badr W, Al Bader ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics