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List Caps
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"Fanconi anaemia (pancytopenia-dysmelia syndrome)"

Line 3:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.

"Trisomy 18"

Line 10:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.

"Radial clubhand"

Line 12:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Inline EG
suggestion

"phocomelia (e.g. thalidomide embryopathy)"

Line 6:26 · Consider replacing a bracketed e.g. with an inline e.g. after a comma.