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Results 1 - 1 of 1 for Neurodevelopmental disorder with hypotonia characteristic brain abnormalities
  1. ATN1 gene 
    ... People with CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause CHEDDA ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics