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Results 1 - 1 of 1 for Kleefstra syndrome due to a point mutation
  1. Renpenning syndrome 
    ... syndrome Hamel cerebropalatocardiac syndrome Porteous syndrome Sutherland-Haan syndrome X-linked intellectual deficit due to PQBP1 mutations X-linked intellectual deficit, Renpenning type Genetic Testing ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics