Alan presented 'failure to thrive' symptoms starting at 2 months old, which started a yearlong odyssey to determine the cause of his compounding developmental delays. He was diagnosed with BCAP31-related disorder after completing whole exome sequence genetic testing at 16-months old. He presents with all of the features of the DDCH phenotype commonly associated with BCAP31 disorders (deafness, dystonia and cerebral hypomyelination) ....