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Lint: familial-dysautonomia

Oxford Comma
suggestion

"sensory loss, particularly affecting taste, pain and temperature"

Line 12:42 · Use the Oxford comma in 'taste, pain and temperature'.
There Is
suggestion

"In familial dysautonomia, a decreased amount of dopamine beta-hydroxylase in the blood is noted leading to recurrent vomiting. Moreover, two mutations of chromosome 9 have been identified, primarily in the IKBKAP gene 6. There is also a decreased number of unmyelinated nerve fibres that is thought to cause a sensory neuropathy 5."

Line 23:245 · Don't start a sentence with 'There is'.