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Lint: legius-syndrome

List Punctuation
error

"macrocephaly."

Line 9:5 · Do not put full stops at the end of a list item.
List Caps
warning

"Noonan-like face"

Line 11:5 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Acronyms
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"The disease is caused by a heterozygous mutation in the SPRED1 gene, which acts as a negative regulator of RAS pathway and interacts with neurofibromin, the product of the NF1 gene."

Line 16:111 · 'RAS' has no definition. Spell it out if it's unfamiliar to the audience.
Oxford Comma
suggestion

"Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterised by multiple café-au-lait spots, with or without freckles and macrocephaly."

Line 1:143 · Use the Oxford comma in 'spots, with or without'.
Biographical Lifespan
suggestion

"History and etymology"

Line 18:1 · A bold element in the History and etymology section should be a person; it would be useful to have their lifespan details: '<h4>History and etymology</h4> <p>Legius syndrome was named after <strong>Eric Legius</strong> '