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Results 1 - 1 of 1 for Isolated congenital microcephaly
  1. Fumarase deficiency 
    ... infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle ... been reported worldwide. Several were born in an isolated religious community in the southwestern United States. Fumarase ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics